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P51587

- BRCA2_HUMAN

UniProt

P51587 - BRCA2_HUMAN

Protein

Breast cancer type 2 susceptibility protein

Gene

BRCA2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 167 (01 Oct 2014)
      Sequence version 2 (20 Jun 2001)
      Previous versions | rss
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    Functioni

    Involved in double-strand break repair and/or homologous recombination. Binds RAD51 and potentiates recombinational DNA repair by promoting assembly of RAD51 onto single-stranded DNA (ssDNA). Acts by targeting RAD51 to ssDNA over double-stranded DNA, enabling RAD51 to displace replication protein-A (RPA) from ssDNA and stabilizing RAD51-ssDNA filaments by blocking ATP hydrolysis. Part of a PALB2-scaffolded HR complex containing RAD51C and which is thought to play a role in DNA repair by HR. May participate in S phase checkpoint activation. Binds selectively to ssDNA, and to ssDNA in tailed duplexes and replication fork structures. May play a role in the extension step after strand invasion at replication-dependent DNA double-strand breaks; together with PALB2 is involved in both POLH localization at collapsed replication forks and DNA polymerization activity. In concert with NPM1, regulates centrosome duplication.9 Publications

    GO - Molecular functioni

    1. gamma-tubulin binding Source: UniProtKB
    2. H3 histone acetyltransferase activity Source: UniProtKB
    3. H4 histone acetyltransferase activity Source: UniProtKB
    4. protease binding Source: UniProtKB
    5. protein binding Source: UniProtKB
    6. single-stranded DNA binding Source: UniProtKB

    GO - Biological processi

    1. brain development Source: Ensembl
    2. cell aging Source: Ensembl
    3. centrosome duplication Source: UniProtKB
    4. cytokinesis Source: UniProtKB
    5. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator Source: Ensembl
    6. DNA repair Source: Reactome
    7. double-strand break repair Source: UniProtKB
    8. double-strand break repair via homologous recombination Source: UniProtKB
    9. female gonad development Source: Ensembl
    10. hemopoiesis Source: Ensembl
    11. histone H3 acetylation Source: UniProtKB
    12. histone H4 acetylation Source: UniProtKB
    13. inner cell mass cell proliferation Source: Ensembl
    14. intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator Source: Ensembl
    15. male meiosis I Source: Ensembl
    16. negative regulation of mammary gland epithelial cell proliferation Source: UniProtKB
    17. nucleotide-excision repair Source: UniProtKB
    18. oocyte maturation Source: Ensembl
    19. positive regulation of mitotic cell cycle Source: Ensembl
    20. positive regulation of transcription, DNA-templated Source: UniProtKB
    21. regulation of cytokinesis Source: Ensembl
    22. replication fork protection Source: Ensembl
    23. response to gamma radiation Source: Ensembl
    24. response to UV-C Source: Ensembl
    25. response to X-ray Source: Ensembl
    26. spermatogenesis Source: Ensembl

    Keywords - Biological processi

    Cell cycle, DNA damage, DNA recombination, DNA repair

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    ReactomeiREACT_18410. Fanconi Anemia pathway.
    REACT_27271. Meiotic recombination.
    REACT_408. Presynaptic phase of homologous DNA pairing and strand exchange.
    SignaLinkiP51587.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Breast cancer type 2 susceptibility protein
    Alternative name(s):
    Fanconi anemia group D1 protein
    Gene namesi
    Name:BRCA2
    Synonyms:FACD, FANCD1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 13

    Organism-specific databases

    HGNCiHGNC:1101. BRCA2.

    Subcellular locationi

    Nucleus 1 Publication. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome 1 Publication

    GO - Cellular componenti

    1. BRCA2-MAGE-D1 complex Source: UniProtKB
    2. centrosome Source: UniProtKB
    3. cytoplasm Source: HPA
    4. nucleoplasm Source: Reactome
    5. nucleus Source: UniProtKB
    6. protein complex Source: UniProtKB
    7. secretory granule Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.19 Publications
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti25 – 251G → R in BC; abolishes interaction with PALB2.
    VAR_028167
    Natural varianti31 – 311W → C in BC; abolishes interaction with PALB2.
    VAR_028168
    Natural varianti31 – 311W → R in BC; abolishes interaction with PALB2.
    VAR_028169
    Natural varianti32 – 321F → L in BC. 1 Publication
    VAR_005085
    Natural varianti42 – 421Y → C in BC and ovarian cancer; unknown pathological significance. 2 Publications
    Corresponds to variant rs4987046 [ dbSNP | Ensembl ].
    VAR_020705
    Natural varianti53 – 531K → R in BC. 1 Publication
    VAR_005086
    Natural varianti60 – 601N → S in BC; unknown pathological significance. 1 Publication
    VAR_020706
    Natural varianti64 – 641T → I in BC. 1 Publication
    VAR_032712
    Natural varianti81 – 811F → L in BC. 1 Publication
    VAR_005088
    Natural varianti201 – 2011P → R in BC. 1 Publication
    VAR_005089
    Natural varianti211 – 2111V → A in BC. 1 Publication
    VAR_005090
    Natural varianti222 – 2221P → S in BC. 1 Publication
    VAR_005091
    Natural varianti225 – 2251T → A in one patient with BC; normal RNA expression and splicing. 1 Publication
    VAR_032715
    Natural varianti326 – 3261S → R in BC. 1 Publication
    Corresponds to variant rs28897706 [ dbSNP | Ensembl ].
    VAR_032717
    Natural varianti327 – 3271K → E in BC; unknown pathological significance.
    VAR_008767
    Natural varianti405 – 4051G → R in BC; unknown pathological significance. 1 Publication
    VAR_020707
    Natural varianti431 – 4311T → I in BC; unknown pathological significance. 1 Publication
    VAR_020708
    Natural varianti448 – 4481R → H in BC; unknown pathological significance. 1 Publication
    VAR_020709
    Natural varianti462 – 4621E → G in BC; unknown pathological significance. 3 Publications
    Corresponds to variant rs56403624 [ dbSNP | Ensembl ].
    VAR_020710
    Natural varianti505 – 5051I → T in BC. 1 Publication
    Corresponds to variant rs28897708 [ dbSNP | Ensembl ].
    VAR_032718
    Natural varianti554 – 5541C → W in BC and pancreas cancer. 1 Publication
    VAR_005095
    Natural varianti613 – 6131L → R in BC; unknown pathological significance. 1 Publication
    VAR_020712
    Natural varianti728 – 7281D → A in BC.
    VAR_005097
    Natural varianti729 – 7291I → M in BC. 1 Publication
    VAR_032719
    Natural varianti935 – 9351D → N in BC; unknown pathological significance.
    Corresponds to variant rs28897716 [ dbSNP | Ensembl ].
    VAR_008772
    Natural varianti1036 – 10361E → K in BC; unknown pathological significance. 1 Publication
    VAR_020713
    Natural varianti1106 – 11061S → R in BC; unknown pathological significance. 1 Publication
    VAR_020714
    Natural varianti1172 – 11721S → L in BC; unknown pathological significance. 1 Publication
    VAR_032720
    Natural varianti1179 – 11791S → N in BC. 1 Publication
    VAR_020715
    Natural varianti1302 – 13021Missing in BC.
    VAR_005100
    Natural varianti1445 – 14451K → T in BC; unknown pathological significance. 1 Publication
    VAR_020717
    Natural varianti1522 – 15221L → F in one patient with BC. 1 Publication
    VAR_032721
    Natural varianti1524 – 15241F → V in BC; unknown pathological significance. 1 Publication
    VAR_020718
    Natural varianti1580 – 15801C → Y in BC; somatic mutation. 1 Publication
    VAR_020719
    Natural varianti1679 – 16791T → I in BC. 1 Publication
    VAR_020720
    Natural varianti1690 – 16901K → N in BC. 1 Publication
    VAR_032722
    Natural varianti1730 – 17301N → Y in BC. 1 Publication
    VAR_032723
    Natural varianti1771 – 17711G → D in BC; unknown pathological significance. 2 Publications
    Corresponds to variant rs80358755 [ dbSNP | Ensembl ].
    VAR_008779
    Natural varianti1804 – 18041V → A in BC. 1 Publication
    VAR_020721
    Natural varianti1887 – 18871T → M in BC. 1 Publication
    VAR_032724
    Natural varianti1901 – 19011E → K in BC. 1 Publication
    VAR_020722
    Natural varianti1929 – 19291I → V in BC; unknown pathological significance. 1 Publication
    Corresponds to variant rs79538375 [ dbSNP | Ensembl ].
    VAR_020723
    Natural varianti2031 – 20311T → A in BC; unknown pathological significance. 1 Publication
    VAR_020724
    Natural varianti2044 – 20441G → V in one patient with BC. 1 Publication
    Corresponds to variant rs56191579 [ dbSNP | Ensembl ].
    VAR_032726
    Natural varianti2072 – 20721S → C in BC. 1 Publication
    VAR_020725
    Natural varianti2089 – 20891E → D in BC. 1 Publication
    VAR_008783
    Natural varianti2094 – 20941Y → C in BC. 1 Publication
    VAR_020726
    Natural varianti2096 – 20961P → L in BC. 1 Publication
    VAR_020727
    Natural varianti2118 – 21181V → L in BC; unknown pathological significance. 1 Publication
    VAR_020728
    Natural varianti2128 – 21281K → N in BC. 1 Publication
    VAR_020729
    Natural varianti2135 – 21351N → H in BC. 1 Publication
    VAR_032728
    Natural varianti2222 – 22221Y → C in BC. 1 Publication
    VAR_032729
    Natural varianti2274 – 22741G → V in BC.
    VAR_005105
    Natural varianti2275 – 22751E → G in BC; unknown pathological significance. 1 Publication
    VAR_020730
    Natural varianti2293 – 22931F → L in BC; unknown pathological significance. 1 Publication
    VAR_020731
    Natural varianti2353 – 23531G → R in BC; unknown pathological significance. 1 Publication
    VAR_020732
    Natural varianti2415 – 24151H → N in BC. 1 Publication
    VAR_005106
    Natural varianti2421 – 24211Q → H in BC.
    VAR_005107
    Natural varianti2456 – 24561Q → E in BC. 1 Publication
    VAR_032731
    Natural varianti2488 – 24881R → K in BC; unknown pathological significance. 1 Publication
    VAR_020733
    Natural varianti2502 – 25021R → C in BC; unknown pathological significance. 1 Publication
    VAR_063911
    Natural varianti2515 – 25151T → I in BC; unknown pathological significance. 1 Publication
    Corresponds to variant rs28897744 [ dbSNP | Ensembl ].
    VAR_008789
    Natural varianti2627 – 26271I → F in BC; unknown pathological significance. 1 Publication
    VAR_063912
    Natural varianti2653 – 26531L → P in BC; unknown pathological significance. 1 Publication
    VAR_063913
    Natural varianti2659 – 26591R → K in BC; unknown pathological significance. 1 Publication
    VAR_063914
    Natural varianti2722 – 27221T → R in BC. 2 Publications
    VAR_018661
    Natural varianti2723 – 27231D → H in BC; unknown pathological significance. 1 Publication
    VAR_020735
    Natural varianti2728 – 27281V → I in BC. 3 Publications
    Corresponds to variant rs28897749 [ dbSNP | Ensembl ].
    VAR_020736
    Natural varianti2729 – 27291K → N in BC. 1 Publication
    Corresponds to variant rs80359065 [ dbSNP | Ensembl ].
    VAR_020737
    Natural varianti2748 – 27481G → D in BC; unknown pathological significance. 1 Publication
    VAR_063917
    Natural varianti2793 – 27931G → R in BC; unknown pathological significance. 1 Publication
    VAR_020738
    Natural varianti2950 – 29501K → N in BC; unknown pathological significance. 2 Publications
    Corresponds to variant rs28897754 [ dbSNP | Ensembl ].
    VAR_020739
    Natural varianti3013 – 30131T → I in BC; unknown pathological significance. 2 Publications
    Corresponds to variant rs28897755 [ dbSNP | Ensembl ].
    VAR_020740
    Natural varianti3095 – 30951D → E in BC; unknown pathological significance. 2 Publications
    VAR_005108
    Natural varianti3098 – 30981Y → H in BC and ovarian cancer; unknown pathological significance. 2 Publications
    Corresponds to variant rs41293521 [ dbSNP | Ensembl ].
    VAR_008794
    Natural varianti3118 – 31181M → T in BC. 1 Publication
    VAR_005110
    Natural varianti3124 – 31241N → I in BC. 1 Publication
    VAR_020743
    Natural varianti3196 – 31961K → E in BC. 1 Publication
    Corresponds to variant rs80359228 [ dbSNP | Ensembl ].
    VAR_020744
    Natural varianti3357 – 33571T → R in BC.
    VAR_005111
    Pancreatic cancer 2 (PNCA2) [MIM:613347]: A malignant neoplasm of the pancreas. Tumors can arise from both the exocrine and endocrine portions of the pancreas, but 95% of them develop from the exocrine portion, including the ductal epithelium, acinar cells, connective tissue, and lymphatic tissue.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Breast-ovarian cancer, familial, 2 (BROVCA2) [MIM:612555]: A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate.
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Fanconi anemia complementation group D1 (FANCD1) [MIM:605724]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti2336 – 23361R → H in FANCD1. 2 Publications
    Corresponds to variant rs28897743 [ dbSNP | Ensembl ].
    VAR_032730
    Natural varianti2510 – 25101L → P in FANCD1. 1 Publication
    VAR_032732
    Natural varianti2626 – 26261W → C in FANCD1. 2 Publications
    VAR_032733
    Glioma 3 (GLM3) [MIM:613029]: Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi3291 – 32911S → E: Impaired interaction with RAD51. 1 Publication
    Mutagenesisi3387 – 33871T → A: Loss of phosphorylation by CHEK1 and CHEK2 (in vitro). 1 Publication

    Keywords - Diseasei

    Disease mutation, Fanconi anemia, Tumor suppressor

    Organism-specific databases

    MIMi114480. phenotype.
    227650. phenotype.
    605724. phenotype.
    612555. phenotype.
    613029. phenotype.
    613347. phenotype.
    Orphaneti1333. Familial pancreatic carcinoma.
    1331. Familial prostate cancer.
    84. Fanconi anemia.
    145. Hereditary breast and ovarian cancer syndrome.
    227535. Hereditary breast cancer.
    213524. Hereditary site-specific ovarian cancer syndrome.
    319462. Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations.
    PharmGKBiPA25412.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 34183418Breast cancer type 2 susceptibility proteinPRO_0000064984Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei755 – 7551Phosphoserine2 Publications
    Modified residuei3291 – 32911Phosphoserine; by CDK1 and CDK22 Publications
    Modified residuei3387 – 33871Phosphothreonine; by CHEK1 and CHEK22 Publications

    Post-translational modificationi

    Phosphorylated by ATM upon irradiation-induced DNA damage. Phosphorylation by CHEK1 and CHEK2 regulates interaction with RAD51. Phosphorylation at Ser-3291 by CDK1 and CDK2 is low in S phase when recombination is active, but increases as cells progress towards mitosis; this phosphorylation prevents homologous recombination-dependent repair during S phase and G2 by inhibiting RAD51 binding.4 Publications
    Ubiquitinated in the absence of DNA damage; this does not lead to proteasomal degradation. In contrast, ubiquitination in response to DNA damage leads to proteasomal degradation.1 Publication

    Keywords - PTMi

    Phosphoprotein, Ubl conjugation

    Proteomic databases

    MaxQBiP51587.
    PaxDbiP51587.
    PRIDEiP51587.

    PTM databases

    PhosphoSiteiP51587.

    Expressioni

    Tissue specificityi

    Highest levels of expression in breast and thymus, with slightly lower levels in lung, ovary and spleen.

    Gene expression databases

    ArrayExpressiP51587.
    BgeeiP51587.
    CleanExiHS_BRCA2.
    GenevestigatoriP51587.

    Organism-specific databases

    HPAiHPA026815.
    HPA056112.

    Interactioni

    Subunit structurei

    Monomer and dimer. Interacts with RAD51; regulates RAD51 recruitment and function at sites of DNA repair. Interacts with DSS1, WDR16, USP11, DMC1, ROCK2 and NPM1. Interacts with both nonubiquitinated and monoubiquitinated FANCD2; this complex also includes XRCC3 and phosphorylated FANCG. Interacts with WDR16. Part of a BRCA complex containing BRCA1, BRCA2 and PALB2. Interacts directly with PALB2 which may serve as a scaffold for a HR complex containing PALB2, BRCA2, RAD51C, RAD51 and XRCC3. Interacts with BRCA1 only in the presence of PALB2 which serves as the bridging protein. Interacts with POLH; the interaction is direct.17 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    DMC1Q1456511EBI-79792,EBI-930865
    FANCD2Q9BXW916EBI-79792,EBI-359343
    FANCD2Q9BXW9-23EBI-79792,EBI-596878
    HMG20BQ9P0W28EBI-79792,EBI-713401
    PALB2Q86YC215EBI-79792,EBI-1222653
    PDS5BQ9NTI526EBI-79792,EBI-1175604
    POLHQ9Y2536EBI-79792,EBI-2827270
    RAD51Q0660936EBI-79792,EBI-297202
    SHFM1P608965EBI-79792,EBI-79819

    Protein-protein interaction databases

    BioGridi107142. 56 interactions.
    DIPiDIP-24214N.
    IntActiP51587. 24 interactions.
    MINTiMINT-1540184.
    STRINGi9606.ENSP00000369497.

    Structurei

    Secondary structure

    1
    3418
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi31 – 355
    Helixi1520 – 15223
    Helixi1536 – 15416
    Turni1542 – 15465

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1N0WX-ray1.70B1517-1551[»]
    3EU7X-ray2.20X21-39[»]
    ProteinModelPortaliP51587.
    SMRiP51587. Positions 1519-1551, 2479-3184.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP51587.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati1002 – 103635BRCA2 1Add
    BLAST
    Repeati1212 – 124635BRCA2 2Add
    BLAST
    Repeati1421 – 145535BRCA2 3Add
    BLAST
    Repeati1517 – 155135BRCA2 4Add
    BLAST
    Repeati1664 – 169835BRCA2 5Add
    BLAST
    Repeati1837 – 187135BRCA2 6Add
    BLAST
    Repeati1971 – 200535BRCA2 7Add
    BLAST
    Repeati2051 – 208535BRCA2 8Add
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 4040Interaction with PALB2Add
    BLAST
    Regioni639 – 1000362Interaction with NPM1Add
    BLAST
    Regioni1338 – 1781444Interaction with POLHAdd
    BLAST
    Regioni1410 – 1595186Required for stimulation of POLH DNA polymerization activityAdd
    BLAST
    Regioni2350 – 2545196Interaction with FANCD2Add
    BLAST

    Sequence similaritiesi

    Contains 8 BRCA2 repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG331296.
    HOGENOMiHOG000139693.
    HOVERGENiHBG050731.
    InParanoidiP51587.
    KOiK08775.
    OrthoDBiEOG75TMB1.
    PhylomeDBiP51587.
    TreeFamiTF105041.

    Family and domain databases

    Gene3Di2.40.50.140. 4 hits.
    InterProiIPR015525. BRCA2.
    IPR015252. BRCA2_hlx.
    IPR015187. BRCA2_OB_1.
    IPR015188. BRCA2_OB_3.
    IPR002093. BRCA2_repeat.
    IPR012340. NA-bd_OB-fold.
    IPR015205. Tower.
    [Graphical view]
    PANTHERiPTHR11289. PTHR11289. 1 hit.
    PfamiPF09169. BRCA-2_helical. 1 hit.
    PF09103. BRCA-2_OB1. 1 hit.
    PF09104. BRCA-2_OB3. 1 hit.
    PF00634. BRCA2. 8 hits.
    PF09121. Tower. 1 hit.
    [Graphical view]
    PIRSFiPIRSF002397. BRCA2. 1 hit.
    SUPFAMiSSF50249. SSF50249. 4 hits.
    SSF81872. SSF81872. 1 hit.
    PROSITEiPS50138. BRCA2_REPEAT. 8 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P51587-1 [UniParc]FASTAAdd to Basket

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    MPIGSKERPT FFEIFKTRCN KADLGPISLN WFEELSSEAP PYNSEPAEES     50
    EHKNNNYEPN LFKTPQRKPS YNQLASTPII FKEQGLTLPL YQSPVKELDK 100
    FKLDLGRNVP NSRHKSLRTV KTKMDQADDV SCPLLNSCLS ESPVVLQCTH 150
    VTPQRDKSVV CGSLFHTPKF VKGRQTPKHI SESLGAEVDP DMSWSSSLAT 200
    PPTLSSTVLI VRNEEASETV FPHDTTANVK SYFSNHDESL KKNDRFIASV 250
    TDSENTNQRE AASHGFGKTS GNSFKVNSCK DHIGKSMPNV LEDEVYETVV 300
    DTSEEDSFSL CFSKCRTKNL QKVRTSKTRK KIFHEANADE CEKSKNQVKE 350
    KYSFVSEVEP NDTDPLDSNV AHQKPFESGS DKISKEVVPS LACEWSQLTL 400
    SGLNGAQMEK IPLLHISSCD QNISEKDLLD TENKRKKDFL TSENSLPRIS 450
    SLPKSEKPLN EETVVNKRDE EQHLESHTDC ILAVKQAISG TSPVASSFQG 500
    IKKSIFRIRE SPKETFNASF SGHMTDPNFK KETEASESGL EIHTVCSQKE 550
    DSLCPNLIDN GSWPATTTQN SVALKNAGLI STLKKKTNKF IYAIHDETSY 600
    KGKKIPKDQK SELINCSAQF EANAFEAPLT FANADSGLLH SSVKRSCSQN 650
    DSEEPTLSLT SSFGTILRKC SRNETCSNNT VISQDLDYKE AKCNKEKLQL 700
    FITPEADSLS CLQEGQCEND PKSKKVSDIK EEVLAAACHP VQHSKVEYSD 750
    TDFQSQKSLL YDHENASTLI LTPTSKDVLS NLVMISRGKE SYKMSDKLKG 800
    NNYESDVELT KNIPMEKNQD VCALNENYKN VELLPPEKYM RVASPSRKVQ 850
    FNQNTNLRVI QKNQEETTSI SKITVNPDSE ELFSDNENNF VFQVANERNN 900
    LALGNTKELH ETDLTCVNEP IFKNSTMVLY GDTGDKQATQ VSIKKDLVYV 950
    LAEENKNSVK QHIKMTLGQD LKSDISLNID KIPEKNNDYM NKWAGLLGPI 1000
    SNHSFGGSFR TASNKEIKLS EHNIKKSKMF FKDIEEQYPT SLACVEIVNT 1050
    LALDNQKKLS KPQSINTVSA HLQSSVVVSD CKNSHITPQM LFSKQDFNSN 1100
    HNLTPSQKAE ITELSTILEE SGSQFEFTQF RKPSYILQKS TFEVPENQMT 1150
    ILKTTSEECR DADLHVIMNA PSIGQVDSSK QFEGTVEIKR KFAGLLKNDC 1200
    NKSASGYLTD ENEVGFRGFY SAHGTKLNVS TEALQKAVKL FSDIENISEE 1250
    TSAEVHPISL SSSKCHDSVV SMFKIENHND KTVSEKNNKC QLILQNNIEM 1300
    TTGTFVEEIT ENYKRNTENE DNKYTAASRN SHNLEFDGSD SSKNDTVCIH 1350
    KDETDLLFTD QHNICLKLSG QFMKEGNTQI KEDLSDLTFL EVAKAQEACH 1400
    GNTSNKEQLT ATKTEQNIKD FETSDTFFQT ASGKNISVAK ESFNKIVNFF 1450
    DQKPEELHNF SLNSELHSDI RKNKMDILSY EETDIVKHKI LKESVPVGTG 1500
    NQLVTFQGQP ERDEKIKEPT LLGFHTASGK KVKIAKESLD KVKNLFDEKE 1550
    QGTSEITSFS HQWAKTLKYR EACKDLELAC ETIEITAAPK CKEMQNSLNN 1600
    DKNLVSIETV VPPKLLSDNL CRQTENLKTS KSIFLKVKVH ENVEKETAKS 1650
    PATCYTNQSP YSVIENSALA FYTSCSRKTS VSQTSLLEAK KWLREGIFDG 1700
    QPERINTADY VGNYLYENNS NSTIAENDKN HLSEKQDTYL SNSSMSNSYS 1750
    YHSDEVYNDS GYLSKNKLDS GIEPVLKNVE DQKNTSFSKV ISNVKDANAY 1800
    PQTVNEDICV EELVTSSSPC KNKNAAIKLS ISNSNNFEVG PPAFRIASGK 1850
    IVCVSHETIK KVKDIFTDSF SKVIKENNEN KSKICQTKIM AGCYEALDDS 1900
    EDILHNSLDN DECSTHSHKV FADIQSEEIL QHNQNMSGLE KVSKISPCDV 1950
    SLETSDICKC SIGKLHKSVS SANTCGIFST ASGKSVQVSD ASLQNARQVF 2000
    SEIEDSTKQV FSKVLFKSNE HSDQLTREEN TAIRTPEHLI SQKGFSYNVV 2050
    NSSAFSGFST ASGKQVSILE SSLHKVKGVL EEFDLIRTEH SLHYSPTSRQ 2100
    NVSKILPRVD KRNPEHCVNS EMEKTCSKEF KLSNNLNVEG GSSENNHSIK 2150
    VSPYLSQFQQ DKQQLVLGTK VSLVENIHVL GKEQASPKNV KMEIGKTETF 2200
    SDVPVKTNIE VCSTYSKDSE NYFETEAVEI AKAFMEDDEL TDSKLPSHAT 2250
    HSLFTCPENE EMVLSNSRIG KRRGEPLILV GEPSIKRNLL NEFDRIIENQ 2300
    EKSLKASKST PDGTIKDRRL FMHHVSLEPI TCVPFRTTKE RQEIQNPNFT 2350
    APGQEFLSKS HLYEHLTLEK SSSNLAVSGH PFYQVSATRN EKMRHLITTG 2400
    RPTKVFVPPF KTKSHFHRVE QCVRNINLEE NRQKQNIDGH GSDDSKNKIN 2450
    DNEIHQFNKN NSNQAAAVTF TKCEEEPLDL ITSLQNARDI QDMRIKKKQR 2500
    QRVFPQPGSL YLAKTSTLPR ISLKAAVGGQ VPSACSHKQL YTYGVSKHCI 2550
    KINSKNAESF QFHTEDYFGK ESLWTGKGIQ LADGGWLIPS NDGKAGKEEF 2600
    YRALCDTPGV DPKLISRIWV YNHYRWIIWK LAAMECAFPK EFANRCLSPE 2650
    RVLLQLKYRY DTEIDRSRRS AIKKIMERDD TAAKTLVLCV SDIISLSANI 2700
    SETSSNKTSS ADTQKVAIIE LTDGWYAVKA QLDPPLLAVL KNGRLTVGQK 2750
    IILHGAELVG SPDACTPLEA PESLMLKISA NSTRPARWYT KLGFFPDPRP 2800
    FPLPLSSLFS DGGNVGCVDV IIQRAYPIQW MEKTSSGLYI FRNEREEEKE 2850
    AAKYVEAQQK RLEALFTKIQ EEFEEHEENT TKPYLPSRAL TRQQVRALQD 2900
    GAELYEAVKN AADPAYLEGY FSEEQLRALN NHRQMLNDKK QAQIQLEIRK 2950
    AMESAEQKEQ GLSRDVTTVW KLRIVSYSKK EKDSVILSIW RPSSDLYSLL 3000
    TEGKRYRIYH LATSKSKSKS ERANIQLAAT KKTQYQQLPV SDEILFQIYQ 3050
    PREPLHFSKF LDPDFQPSCS EVDLIGFVVS VVKKTGLAPF VYLSDECYNL 3100
    LAIKFWIDLN EDIIKPHMLI AASNLQWRPE SKSGLLTLFA GDFSVFSASP 3150
    KEGHFQETFN KMKNTVENID ILCNEAENKL MHILHANDPK WSTPTKDCTS 3200
    GPYTAQIIPG TGNKLLMSSP NCEIYYQSPL SLCMAKRKSV STPVSAQMTS 3250
    KSCKGEKEID DQKNCKKRRA LDFLSRLPLP PPVSPICTFV SPAAQKAFQP 3300
    PRSCGTKYET PIKKKELNSP QMTPFKKFNE ISLLESNSIA DEELALINTQ 3350
    ALLSGSTGEK QFISVSESTR TAPTSSEDYL RLKRRCTTSL IKEQESSQAS 3400
    TEECEKNKQD TITTKKYI 3418
    Length:3,418
    Mass (Da):384,225
    Last modified:June 20, 2001 - v2
    Checksum:i2D14D996FD8241C2
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti758 – 7581S → N in CAA64484. (PubMed:8524414)Curated
    Sequence conflicti1761 – 17622GY → RI in CAA64484. (PubMed:8524414)Curated
    Sequence conflicti1767 – 17671K → N in CAA64484. (PubMed:8524414)Curated
    Sequence conflicti2536 – 25361S → P in CAA98995. (PubMed:15057823)Curated
    Sequence conflicti3216 – 32161L → LVS in CAA97728. (PubMed:15057823)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti25 – 251G → R in BC; abolishes interaction with PALB2.
    VAR_028167
    Natural varianti31 – 311W → C in BC; abolishes interaction with PALB2.
    VAR_028168
    Natural varianti31 – 311W → R in BC; abolishes interaction with PALB2.
    VAR_028169
    Natural varianti32 – 321F → L in BC. 1 Publication
    VAR_005085
    Natural varianti42 – 421Y → C in BC and ovarian cancer; unknown pathological significance. 2 Publications
    Corresponds to variant rs4987046 [ dbSNP | Ensembl ].
    VAR_020705
    Natural varianti53 – 531K → R in BC. 1 Publication
    VAR_005086
    Natural varianti60 – 601N → S in BC; unknown pathological significance. 1 Publication
    VAR_020706
    Natural varianti64 – 641T → I in BC. 1 Publication
    VAR_032712
    Natural varianti75 – 751A → P in ovarian cancer and renal cancer; unknown pathological significance. 1 Publication
    Corresponds to variant rs28897701 [ dbSNP | Ensembl ].
    VAR_005087
    Natural varianti81 – 811F → L in BC. 1 Publication
    VAR_005088
    Natural varianti108 – 1081N → H.
    VAR_008766
    Natural varianti118 – 1181R → H in one patient with esophageal carcinoma. 1 Publication
    VAR_032713
    Natural varianti192 – 1921M → T in one patient with pancreatic cancer. 1 Publication
    VAR_032714
    Natural varianti201 – 2011P → R in BC. 1 Publication
    VAR_005089
    Natural varianti211 – 2111V → A in BC. 1 Publication
    VAR_005090
    Natural varianti222 – 2221P → S in BC. 1 Publication
    VAR_005091
    Natural varianti225 – 2251T → A in one patient with BC; normal RNA expression and splicing. 1 Publication
    VAR_032715
    Natural varianti289 – 2891N → H Common polymorphism; was originally thought to be linked to ovarian cancer. 6 Publications
    Corresponds to variant rs766173 [ dbSNP | Ensembl ].
    VAR_005092
    Natural varianti315 – 3151C → S in one patient with esophageal carcinoma. 1 Publication
    Corresponds to variant rs79483201 [ dbSNP | Ensembl ].
    VAR_032716
    Natural varianti322 – 3221K → Q.1 Publication
    Corresponds to variant rs11571640 [ dbSNP | Ensembl ].
    VAR_018908
    Natural varianti326 – 3261S → R in BC. 1 Publication
    Corresponds to variant rs28897706 [ dbSNP | Ensembl ].
    VAR_032717
    Natural varianti327 – 3271K → E in BC; unknown pathological significance.
    VAR_008767
    Natural varianti355 – 3551V → L in lung cancer.
    VAR_005093
    Natural varianti372 – 3721H → N Common polymorphism; associated with an increased risk of breast cancer and with an effect on prenatal viability with increased fitness of males and decreased fitness of females. 10 Publications
    Corresponds to variant rs144848 [ dbSNP | Ensembl ].
    VAR_005094
    Natural varianti405 – 4051G → R in BC; unknown pathological significance. 1 Publication
    VAR_020707
    Natural varianti431 – 4311T → I in BC; unknown pathological significance. 1 Publication
    VAR_020708
    Natural varianti448 – 4481R → H in BC; unknown pathological significance. 1 Publication
    VAR_020709
    Natural varianti462 – 4621E → G in BC; unknown pathological significance. 3 Publications
    Corresponds to variant rs56403624 [ dbSNP | Ensembl ].
    VAR_020710
    Natural varianti505 – 5051I → T in BC. 1 Publication
    Corresponds to variant rs28897708 [ dbSNP | Ensembl ].
    VAR_032718
    Natural varianti513 – 5131K → R.
    Corresponds to variant rs28897709 [ dbSNP | Ensembl ].
    VAR_056751
    Natural varianti554 – 5541C → W in BC and pancreas cancer. 1 Publication
    VAR_005095
    Natural varianti582 – 5821T → P.1 Publication
    Corresponds to variant rs80358457 [ dbSNP | Ensembl ].
    VAR_008768
    Natural varianti598 – 5981T → A.1 Publication
    Corresponds to variant rs28897710 [ dbSNP | Ensembl ].
    VAR_020711
    Natural varianti599 – 5991S → F.1 Publication
    Corresponds to variant rs1046984 [ dbSNP | Ensembl ].
    VAR_035436
    Natural varianti613 – 6131L → R in BC; unknown pathological significance. 1 Publication
    VAR_020712
    Natural varianti630 – 6301T → I in ovarian cancer.
    VAR_005096
    Natural varianti707 – 7071D → Y.
    Corresponds to variant rs80358487 [ dbSNP | Ensembl ].
    VAR_008769
    Natural varianti728 – 7281D → A in BC.
    VAR_005097
    Natural varianti729 – 7291I → M in BC. 1 Publication
    VAR_032719
    Natural varianti784 – 7841M → V.2 Publications
    Corresponds to variant rs11571653 [ dbSNP | Ensembl ].
    VAR_008770
    Natural varianti886 – 8861N → I.
    VAR_008771
    Natural varianti929 – 9291L → S.1 Publication
    Corresponds to variant rs2227943 [ dbSNP | Ensembl ].
    VAR_018909
    Natural varianti935 – 9351D → N in BC; unknown pathological significance.
    Corresponds to variant rs28897716 [ dbSNP | Ensembl ].
    VAR_008772
    Natural varianti976 – 9761S → F.1 Publication
    Corresponds to variant rs11571656 [ dbSNP | Ensembl ].
    VAR_018910
    Natural varianti982 – 9821I → L.
    Corresponds to variant rs28897717 [ dbSNP | Ensembl ].
    VAR_056752
    Natural varianti987 – 9871N → I.1 Publication
    Corresponds to variant rs2227944 [ dbSNP | Ensembl ].
    VAR_018911
    Natural varianti991 – 9911N → D Common polymorphism. 8 Publications
    Corresponds to variant rs1799944 [ dbSNP | Ensembl ].
    VAR_005098
    Natural varianti1036 – 10361E → K in BC; unknown pathological significance. 1 Publication
    VAR_020713
    Natural varianti1106 – 11061S → R in BC; unknown pathological significance. 1 Publication
    VAR_020714
    Natural varianti1147 – 11471N → S.1 Publication
    Corresponds to variant rs1799951 [ dbSNP | Ensembl ].
    VAR_005099
    Natural varianti1172 – 11721S → L in BC; unknown pathological significance. 1 Publication
    VAR_032720
    Natural varianti1179 – 11791S → N in BC. 1 Publication
    VAR_020715
    Natural varianti1279 – 12791N → S.2 Publications
    VAR_020716
    Natural varianti1286 – 12861Missing.
    VAR_008773
    Natural varianti1290 – 12901C → Y.
    Corresponds to variant rs41293485 [ dbSNP | Ensembl ].
    VAR_008774
    Natural varianti1302 – 13021Missing in BC.
    VAR_005100
    Natural varianti1414 – 14141T → M.
    Corresponds to variant rs70953664 [ dbSNP | Ensembl ].
    VAR_008775
    Natural varianti1420 – 14201D → Y.5 Publications
    Corresponds to variant rs28897727 [ dbSNP | Ensembl ].
    VAR_008776
    Natural varianti1445 – 14451K → T in BC; unknown pathological significance. 1 Publication
    VAR_020717
    Natural varianti1513 – 15131D → N.
    VAR_008777
    Natural varianti1522 – 15221L → F in one patient with BC. 1 Publication
    VAR_032721
    Natural varianti1524 – 15241F → V in BC; unknown pathological significance. 1 Publication
    VAR_020718
    Natural varianti1529 – 15291G → R in bladder cancer.
    Corresponds to variant rs28897728 [ dbSNP | Ensembl ].
    VAR_005101
    Natural varianti1542 – 15421V → M.
    Corresponds to variant rs28897729 [ dbSNP | Ensembl ].
    VAR_056753
    Natural varianti1561 – 15611H → N.1 Publication
    Corresponds to variant rs2219594 [ dbSNP | Ensembl ].
    VAR_018912
    Natural varianti1580 – 15801C → Y in BC; somatic mutation. 1 Publication
    VAR_020719
    Natural varianti1593 – 15931E → D.1 Publication
    VAR_008778
    Natural varianti1643 – 16431V → A.
    Corresponds to variant rs28897731 [ dbSNP | Ensembl ].
    VAR_056754
    Natural varianti1679 – 16791T → I in BC. 1 Publication
    VAR_020720
    Natural varianti1690 – 16901K → N in BC. 1 Publication
    VAR_032722
    Natural varianti1730 – 17301N → Y in BC. 1 Publication
    VAR_032723
    Natural varianti1771 – 17711G → D in BC; unknown pathological significance. 2 Publications
    Corresponds to variant rs80358755 [ dbSNP | Ensembl ].
    VAR_008779
    Natural varianti1804 – 18041V → A in BC. 1 Publication
    VAR_020721
    Natural varianti1805 – 18051N → S.
    Corresponds to variant rs80358765 [ dbSNP | Ensembl ].
    VAR_008780
    Natural varianti1880 – 18801N → K Polymorphism; was originally thought to be linked to breast cancer. 2 Publications
    Corresponds to variant rs11571657 [ dbSNP | Ensembl ].
    VAR_005102
    Natural varianti1887 – 18871T → M in BC. 1 Publication
    VAR_032724
    Natural varianti1901 – 19011E → K in BC. 1 Publication
    VAR_020722
    Natural varianti1902 – 19021D → N.
    Corresponds to variant rs4987048 [ dbSNP | Ensembl ].
    VAR_008781
    Natural varianti1915 – 19151T → M May be a rare polymorphism; somatic mutation. 6 Publications
    Corresponds to variant rs4987117 [ dbSNP | Ensembl ].
    VAR_005103
    Natural varianti1929 – 19291I → V in BC; unknown pathological significance. 1 Publication
    Corresponds to variant rs79538375 [ dbSNP | Ensembl ].
    VAR_020723
    Natural varianti1979 – 19791S → R.
    Corresponds to variant rs28897737 [ dbSNP | Ensembl ].
    VAR_056755
    Natural varianti1988 – 19881V → I in one patient with esophageal carcinoma; somatic mutation. 1 Publication
    VAR_032725
    Natural varianti2031 – 20311T → A in BC; unknown pathological significance. 1 Publication
    VAR_020724
    Natural varianti2034 – 20341R → C.3 Publications
    Corresponds to variant rs1799954 [ dbSNP | Ensembl ].
    VAR_005104
    Natural varianti2044 – 20441G → V in one patient with BC. 1 Publication
    Corresponds to variant rs56191579 [ dbSNP | Ensembl ].
    VAR_032726
    Natural varianti2072 – 20721S → C in BC. 1 Publication
    VAR_020725
    Natural varianti2074 – 20741H → N.
    Corresponds to variant rs34309943 [ dbSNP | Ensembl ].
    VAR_008782
    Natural varianti2089 – 20891E → D in BC. 1 Publication
    VAR_008783
    Natural varianti2094 – 20941Y → C in BC. 1 Publication
    VAR_020726
    Natural varianti2096 – 20961P → L in BC. 1 Publication
    VAR_020727
    Natural varianti2108 – 21081R → C.1 Publication
    Corresponds to variant rs55794205 [ dbSNP | Ensembl ].
    VAR_032727
    Natural varianti2116 – 21161H → R.
    Corresponds to variant rs55953736 [ dbSNP | Ensembl ].
    VAR_061563
    Natural varianti2118 – 21181V → L in BC; unknown pathological significance. 1 Publication
    VAR_020728
    Natural varianti2128 – 21281K → N in BC. 1 Publication
    VAR_020729
    Natural varianti2135 – 21351N → H in BC. 1 Publication
    VAR_032728
    Natural varianti2138 – 21381V → F.1 Publication
    Corresponds to variant rs11571659 [ dbSNP | Ensembl ].
    VAR_008784
    Natural varianti2162 – 21621K → R.1 Publication
    Corresponds to variant rs11571660 [ dbSNP | Ensembl ].
    VAR_018913
    Natural varianti2222 – 22221Y → C in BC. 1 Publication
    VAR_032729
    Natural varianti2238 – 22381D → E.
    Corresponds to variant rs28897742 [ dbSNP | Ensembl ].
    VAR_056756
    Natural varianti2274 – 22741G → V in BC.
    VAR_005105
    Natural varianti2275 – 22751E → G in BC; unknown pathological significance. 1 Publication
    VAR_020730
    Natural varianti2293 – 22931F → L in BC; unknown pathological significance. 1 Publication
    VAR_020731
    Natural varianti2336 – 23361R → H in FANCD1. 2 Publications
    Corresponds to variant rs28897743 [ dbSNP | Ensembl ].
    VAR_032730
    Natural varianti2336 – 23361R → Q.
    Corresponds to variant rs28897743 [ dbSNP | Ensembl ].
    VAR_056757
    Natural varianti2353 – 23531G → R in BC; unknown pathological significance. 1 Publication
    VAR_020732
    Natural varianti2415 – 24151H → N in BC. 1 Publication
    VAR_005106
    Natural varianti2421 – 24211Q → H in BC.
    VAR_005107
    Natural varianti2440 – 24401H → R.1 Publication
    Corresponds to variant rs4986860 [ dbSNP | Ensembl ].
    VAR_018914
    Natural varianti2447 – 24471N → D.
    Corresponds to variant rs4986859 [ dbSNP | Ensembl ].
    VAR_056758
    Natural varianti2456 – 24561Q → E in BC. 1 Publication
    VAR_032731
    Natural varianti2466 – 24661A → V Polymorphism; was originally thought to be linked to ovarian cancer. 5 Publications
    VAR_008785
    Natural varianti2480 – 24801L → V.
    Corresponds to variant rs80358965 [ dbSNP | Ensembl ].
    VAR_008786
    Natural varianti2488 – 24881R → K in BC; unknown pathological significance. 1 Publication
    VAR_020733
    Natural varianti2490 – 24901I → T.1 Publication
    Corresponds to variant rs11571707 [ dbSNP | Ensembl ].
    VAR_008787
    Natural varianti2502 – 25021R → C in BC; unknown pathological significance. 1 Publication
    VAR_063911
    Natural varianti2502 – 25021R → H in ovarian cancer; unknown pathological significance. 1 Publication
    VAR_008788
    Natural varianti2510 – 25101L → P in FANCD1. 1 Publication
    VAR_032732
    Natural varianti2515 – 25151T → I in BC; unknown pathological significance. 1 Publication
    Corresponds to variant rs28897744 [ dbSNP | Ensembl ].
    VAR_008789
    Natural varianti2626 – 26261W → C in FANCD1. 2 Publications
    VAR_032733
    Natural varianti2627 – 26271I → F in BC; unknown pathological significance. 1 Publication
    VAR_063912
    Natural varianti2653 – 26531L → P in BC; unknown pathological significance. 1 Publication
    VAR_063913
    Natural varianti2659 – 26591R → K in BC; unknown pathological significance. 1 Publication
    VAR_063914
    Natural varianti2663 – 26631E → V Could be associated with cancer susceptibility; major splicing aberration identified with this mutant; multifactorial likelihood analysis provides evidence for pathogenicity. 1 Publication
    VAR_063915
    Natural varianti2686 – 26861L → P.
    Corresponds to variant rs28897746 [ dbSNP | Ensembl ].
    VAR_056759
    Natural varianti2706 – 27061N → S.1 Publication
    VAR_020734
    Natural varianti2722 – 27221T → R in BC. 2 Publications
    VAR_018661
    Natural varianti2723 – 27231D → G Could be associated with cancer susceptibility; has abrogated function consistent with pathogenicity; major splicing aberration identified with this mutant. 1 Publication
    VAR_063916
    Natural varianti2723 – 27231D → H in BC; unknown pathological significance. 1 Publication
    VAR_020735
    Natural varianti2728 – 27281V → I in BC. 3 Publications
    Corresponds to variant rs28897749 [ dbSNP | Ensembl ].
    VAR_020736
    Natural varianti2729 – 27291K → N in BC. 1 Publication
    Corresponds to variant rs80359065 [ dbSNP | Ensembl ].
    VAR_020737
    Natural varianti2748 – 27481G → D in BC; unknown pathological significance. 1 Publication
    VAR_063917
    Natural varianti2787 – 27871R → H in ovarian cancer; somatic mutation. 1 Publication
    VAR_008790
    Natural varianti2792 – 27921L → P.
    Corresponds to variant rs28897751 [ dbSNP | Ensembl ].
    VAR_056760
    Natural varianti2793 – 27931G → R in BC; unknown pathological significance. 1 Publication
    VAR_020738
    Natural varianti2835 – 28351S → P.1 Publication
    Corresponds to variant rs11571746 [ dbSNP | Ensembl ].
    VAR_018915
    Natural varianti2842 – 28421R → C in one patient with esophageal carcinoma; somatic mutation. 1 Publication
    VAR_032734
    Natural varianti2856 – 28561E → A.2 Publications
    Corresponds to variant rs11571747 [ dbSNP | Ensembl ].
    VAR_018916
    Natural varianti2944 – 29441I → F.2 Publications