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P51587

- BRCA2_HUMAN

UniProt

P51587 - BRCA2_HUMAN

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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

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. Interacts with the TREX-2 complex (transcription and export complex 2) subunits PCID2 and DSS1, and is required to prevent R-loop-associated DNA damage and thus transcription-associated genomic instability. Silencing of BRCA2 promotes R-loop accumulation at actively transcribed genes in replicating and non-replicating cells, suggesting that BRCA2 mediates the control of R-loop associated genomic instability, independently of its known role in homologous recombination (PubMed:24896180).10 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. 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
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 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
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.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 – 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.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

BgeeiP51587.
CleanExiHS_BRCA2.
ExpressionAtlasiP51587. baseline and differential.
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. Interacts with the TREX-2 complex subunits PCID2 and DSS1 (PubMed:24896180).18 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. 68 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 – 355Combined sources
Helixi1520 – 15223Combined sources
Helixi1536 – 15416Combined sources
Turni1542 – 15465Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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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        10         20         30         40         50
MPIGSKERPT FFEIFKTRCN KADLGPISLN WFEELSSEAP PYNSEPAEES
60 70 80 90 100
EHKNNNYEPN LFKTPQRKPS YNQLASTPII FKEQGLTLPL YQSPVKELDK
110 120 130 140 150
FKLDLGRNVP NSRHKSLRTV KTKMDQADDV SCPLLNSCLS ESPVVLQCTH
160 170 180 190 200
VTPQRDKSVV CGSLFHTPKF VKGRQTPKHI SESLGAEVDP DMSWSSSLAT
210 220 230 240 250
PPTLSSTVLI VRNEEASETV FPHDTTANVK SYFSNHDESL KKNDRFIASV
260 270 280 290 300
TDSENTNQRE AASHGFGKTS GNSFKVNSCK DHIGKSMPNV LEDEVYETVV
310 320 330 340 350
DTSEEDSFSL CFSKCRTKNL QKVRTSKTRK KIFHEANADE CEKSKNQVKE
360 370 380 390 400
KYSFVSEVEP NDTDPLDSNV AHQKPFESGS DKISKEVVPS LACEWSQLTL
410 420 430 440 450
SGLNGAQMEK IPLLHISSCD QNISEKDLLD TENKRKKDFL TSENSLPRIS
460 470 480 490 500
SLPKSEKPLN EETVVNKRDE EQHLESHTDC ILAVKQAISG TSPVASSFQG
510 520 530 540 550
IKKSIFRIRE SPKETFNASF SGHMTDPNFK KETEASESGL EIHTVCSQKE
560 570 580 590 600
DSLCPNLIDN GSWPATTTQN SVALKNAGLI STLKKKTNKF IYAIHDETSY
610 620 630 640 650
KGKKIPKDQK SELINCSAQF EANAFEAPLT FANADSGLLH SSVKRSCSQN
660 670 680 690 700
DSEEPTLSLT SSFGTILRKC SRNETCSNNT VISQDLDYKE AKCNKEKLQL
710 720 730 740 750
FITPEADSLS CLQEGQCEND PKSKKVSDIK EEVLAAACHP VQHSKVEYSD
760 770 780 790 800
TDFQSQKSLL YDHENASTLI LTPTSKDVLS NLVMISRGKE SYKMSDKLKG
810 820 830 840 850
NNYESDVELT KNIPMEKNQD VCALNENYKN VELLPPEKYM RVASPSRKVQ
860 870 880 890 900
FNQNTNLRVI QKNQEETTSI SKITVNPDSE ELFSDNENNF VFQVANERNN
910 920 930 940 950
LALGNTKELH ETDLTCVNEP IFKNSTMVLY GDTGDKQATQ VSIKKDLVYV
960 970 980 990 1000
LAEENKNSVK QHIKMTLGQD LKSDISLNID KIPEKNNDYM NKWAGLLGPI
1010 1020 1030 1040 1050
SNHSFGGSFR TASNKEIKLS EHNIKKSKMF FKDIEEQYPT SLACVEIVNT
1060 1070 1080 1090 1100
LALDNQKKLS KPQSINTVSA HLQSSVVVSD CKNSHITPQM LFSKQDFNSN
1110 1120 1130 1140 1150
HNLTPSQKAE ITELSTILEE SGSQFEFTQF RKPSYILQKS TFEVPENQMT
1160 1170 1180 1190 1200
ILKTTSEECR DADLHVIMNA PSIGQVDSSK QFEGTVEIKR KFAGLLKNDC
1210 1220 1230 1240 1250
NKSASGYLTD ENEVGFRGFY SAHGTKLNVS TEALQKAVKL FSDIENISEE
1260 1270 1280 1290 1300
TSAEVHPISL SSSKCHDSVV SMFKIENHND KTVSEKNNKC QLILQNNIEM
1310 1320 1330 1340 1350
TTGTFVEEIT ENYKRNTENE DNKYTAASRN SHNLEFDGSD SSKNDTVCIH
1360 1370 1380 1390 1400
KDETDLLFTD QHNICLKLSG QFMKEGNTQI KEDLSDLTFL EVAKAQEACH
1410 1420 1430 1440 1450
GNTSNKEQLT ATKTEQNIKD FETSDTFFQT ASGKNISVAK ESFNKIVNFF
1460 1470 1480 1490 1500
DQKPEELHNF SLNSELHSDI RKNKMDILSY EETDIVKHKI LKESVPVGTG
1510 1520 1530 1540 1550
NQLVTFQGQP ERDEKIKEPT LLGFHTASGK KVKIAKESLD KVKNLFDEKE
1560 1570 1580 1590 1600
QGTSEITSFS HQWAKTLKYR EACKDLELAC ETIEITAAPK CKEMQNSLNN
1610 1620 1630 1640 1650
DKNLVSIETV VPPKLLSDNL CRQTENLKTS KSIFLKVKVH ENVEKETAKS
1660 1670 1680 1690 1700
PATCYTNQSP YSVIENSALA FYTSCSRKTS VSQTSLLEAK KWLREGIFDG
1710 1720 1730 1740 1750
QPERINTADY VGNYLYENNS NSTIAENDKN HLSEKQDTYL SNSSMSNSYS
1760 1770 1780 1790 1800
YHSDEVYNDS GYLSKNKLDS GIEPVLKNVE DQKNTSFSKV ISNVKDANAY
1810 1820 1830 1840 1850
PQTVNEDICV EELVTSSSPC KNKNAAIKLS ISNSNNFEVG PPAFRIASGK
1860 1870 1880 1890 1900
IVCVSHETIK KVKDIFTDSF SKVIKENNEN KSKICQTKIM AGCYEALDDS
1910 1920 1930 1940 1950
EDILHNSLDN DECSTHSHKV FADIQSEEIL QHNQNMSGLE KVSKISPCDV
1960 1970 1980 1990 2000
SLETSDICKC SIGKLHKSVS SANTCGIFST ASGKSVQVSD ASLQNARQVF
2010 2020 2030 2040 2050
SEIEDSTKQV FSKVLFKSNE HSDQLTREEN TAIRTPEHLI SQKGFSYNVV
2060 2070 2080 2090 2100
NSSAFSGFST ASGKQVSILE SSLHKVKGVL EEFDLIRTEH SLHYSPTSRQ
2110 2120 2130 2140 2150
NVSKILPRVD KRNPEHCVNS EMEKTCSKEF KLSNNLNVEG GSSENNHSIK
2160 2170 2180 2190 2200
VSPYLSQFQQ DKQQLVLGTK VSLVENIHVL GKEQASPKNV KMEIGKTETF
2210 2220 2230 2240 2250
SDVPVKTNIE VCSTYSKDSE NYFETEAVEI AKAFMEDDEL TDSKLPSHAT
2260 2270 2280 2290 2300
HSLFTCPENE EMVLSNSRIG KRRGEPLILV GEPSIKRNLL NEFDRIIENQ
2310 2320 2330 2340 2350
EKSLKASKST PDGTIKDRRL FMHHVSLEPI TCVPFRTTKE RQEIQNPNFT
2360 2370 2380 2390 2400
APGQEFLSKS HLYEHLTLEK SSSNLAVSGH PFYQVSATRN EKMRHLITTG
2410 2420 2430 2440 2450
RPTKVFVPPF KTKSHFHRVE QCVRNINLEE NRQKQNIDGH GSDDSKNKIN
2460 2470 2480 2490 2500
DNEIHQFNKN NSNQAAAVTF TKCEEEPLDL ITSLQNARDI QDMRIKKKQR
2510 2520 2530 2540 2550
QRVFPQPGSL YLAKTSTLPR ISLKAAVGGQ VPSACSHKQL YTYGVSKHCI
2560 2570 2580 2590 2600
KINSKNAESF QFHTEDYFGK ESLWTGKGIQ LADGGWLIPS NDGKAGKEEF
2610 2620 2630 2640 2650
YRALCDTPGV DPKLISRIWV YNHYRWIIWK LAAMECAFPK EFANRCLSPE
2660 2670 2680 2690 2700
RVLLQLKYRY DTEIDRSRRS AIKKIMERDD TAAKTLVLCV SDIISLSANI
2710 2720 2730 2740 2750
SETSSNKTSS ADTQKVAIIE LTDGWYAVKA QLDPPLLAVL KNGRLTVGQK
2760 2770 2780 2790 2800
IILHGAELVG SPDACTPLEA PESLMLKISA NSTRPARWYT KLGFFPDPRP
2810 2820 2830 2840 2850
FPLPLSSLFS DGGNVGCVDV IIQRAYPIQW MEKTSSGLYI FRNEREEEKE
2860 2870 2880 2890 2900
AAKYVEAQQK RLEALFTKIQ EEFEEHEENT TKPYLPSRAL TRQQVRALQD
2910 2920 2930 2940 2950
GAELYEAVKN AADPAYLEGY FSEEQLRALN NHRQMLNDKK QAQIQLEIRK
2960 2970 2980 2990 3000
AMESAEQKEQ GLSRDVTTVW KLRIVSYSKK EKDSVILSIW RPSSDLYSLL
3010 3020 3030 3040 3050
TEGKRYRIYH LATSKSKSKS ERANIQLAAT KKTQYQQLPV SDEILFQIYQ
3060 3070 3080 3090 3100
PREPLHFSKF LDPDFQPSCS EVDLIGFVVS VVKKTGLAPF VYLSDECYNL
3110 3120 3130 3140 3150
LAIKFWIDLN EDIIKPHMLI AASNLQWRPE SKSGLLTLFA GDFSVFSASP
3160 3170 3180 3190 3200
KEGHFQETFN KMKNTVENID ILCNEAENKL MHILHANDPK WSTPTKDCTS
3210 3220 3230 3240 3250
GPYTAQIIPG TGNKLLMSSP NCEIYYQSPL SLCMAKRKSV STPVSAQMTS
3260 3270 3280 3290 3300
KSCKGEKEID DQKNCKKRRA LDFLSRLPLP PPVSPICTFV SPAAQKAFQP
3310 3320 3330 3340 3350
PRSCGTKYET PIKKKELNSP QMTPFKKFNE ISLLESNSIA DEELALINTQ
3360 3370 3380 3390 3400
ALLSGSTGEK QFISVSESTR TAPTSSEDYL RLKRRCTTSL IKEQESSQAS
3410
TEECEKNKQD TITTKKYI
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