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P51587

- BRCA2_HUMAN

UniProt

P51587 - BRCA2_HUMAN

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Protein
Breast cancer type 2 susceptibility protein
Gene
BRCA2, FACD, FANCD1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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

GO - Biological processi

  1. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator Source: Ensembl
  2. DNA repair Source: Reactome
  3. brain development Source: Ensembl
  4. cell aging Source: Ensembl
  5. centrosome duplication Source: UniProtKB
  6. cytokinesis Source: UniProtKB
  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 UV-C Source: Ensembl
  24. response to X-ray Source: Ensembl
  25. response to gamma radiation Source: Ensembl
  26. spermatogenesis Source: Ensembl
Complete GO annotation...

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 Inferred. 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
Complete GO annotation...

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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.20 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti25 – 251G → R in BC; abolishes interaction with PALB2. 1 Publication
VAR_028167
Natural varianti31 – 311W → C in BC; abolishes interaction with PALB2. 1 Publication
VAR_028168
Natural varianti31 – 311W → R in BC; abolishes interaction with PALB2. 1 Publication
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

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 protein
PRO_0000064984Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei755 – 7551Phosphoserine1 Publication
Modified residuei3291 – 32911Phosphoserine; by CDK1 and CDK21 Publication
Modified residuei3387 – 33871Phosphothreonine; by CHEK1 and CHEK21 Publication

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.3 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.15 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

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.

Miscellaneous databases

EvolutionaryTraceiP51587.

Family & Domainsi

Domains and Repeats

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

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 4040Interaction with PALB2
Add
BLAST
Regioni639 – 1000362Interaction with NPM1
Add
BLAST
Regioni1338 – 1781444Interaction with POLH
Add
BLAST
Regioni1410 – 1595186Required for stimulation of POLH DNA polymerization activity
Add
BLAST
Regioni2350 – 2545196Interaction with FANCD2
Add
BLAST

Sequence similaritiesi

Contains 8 BRCA2 repeats.

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti25 – 251G → R in BC; abolishes interaction with PALB2. 1 Publication
VAR_028167
Natural varianti31 – 311W → C in BC; abolishes interaction with PALB2. 1 Publication
VAR_028168
Natural varianti31 – 311W → R in BC; abolishes interaction with PALB2. 1 Publication
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. 2 Publications
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. 2 Publications
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
Corresponds to variant rs4987047 [ dbSNP | Ensembl ].
VAR_008791
Natural varianti2950 – 29501K → N in BC; unknown pathological significance. 2 Publications
Corresponds to variant rs28897754 [ dbSNP | Ensembl ].
VAR_020739
Natural varianti2951 – 29511A → T.2 Publications
Corresponds to variant rs11571769 [ dbSNP | Ensembl ].
VAR_008792
Natural varianti2969 – 29691V → M.
Corresponds to variant rs59004709 [ dbSNP | Ensembl ].
VAR_008793
Natural varianti3013 – 30131T → I in BC; unknown pathological significance. 2 Publications
Corresponds to variant rs28897755 [ dbSNP | Ensembl ].
VAR_020740
Natural varianti3052 – 30521R → W Could be associated with cancer susceptibility; has abrogated function consistent with pathogenicity; multifactorial likelihood analysis provides evidence for pathogenicity. 1 Publication
VAR_063918
Natural varianti3063 – 30631P → S in a patient with ovarian cancer; unknown pathological significance. 1 Publication
VAR_020741
Natural varianti3076 – 30761G → E.1 Publication
VAR_020742
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 varianti3101 – 31011L → R.
Corresponds to variant rs28897758 [ dbSNP | Ensembl ].
VAR_056761
Natural varianti3103 – 31031I → M in melanoma.
VAR_005109
Natural varianti3118 – 31181M → T in BC. 1 Publication