Bibliome.ai browser hg19
Search
About
Stats
FAQ
BRCA2 c.3604A>T ;(p.K1202*)
Variant ID: 13-32912096-A-T
NM_000059.3(
BRCA2
):c.3604A>T;(p.K1202*)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: BRCA2: K1202X
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page
Ancestry-specific predisposing germline variants in cancer.
Genome Medicine
Oak, Ninad N; Cherniack, Andrew D AD; Mashl, R Jay RJ; , ; Hirsch, Fred R FR; Ding, Li L; Beroukhim, Rameen R; Gümüş, Zeynep H ZH; Plon, Sharon E SE; Huang, Kuan-Lin KL
Publication Date: 2020-05-29
Variant appearance in text: BRCA2: K1202X
PubMed Link:
32471518
Variant Present in the following documents:
13073_2020_744_MOESM2_ESM.xlsx, sheet 6
13073_2020_744_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page
Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.
Npj Breast Cancer
Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ
Publication Date: 2020
Variant appearance in text: BRCA2: 3604A>T; Lys1202X
PubMed Link:
32377563
Variant Present in the following documents:
41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page