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BRCA2 c.2422G>T ;(p.E808*)
Variant ID: 13-32910914-G-T
NM_000059.3(
BRCA2
):c.2422G>T;(p.E808*)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.
International Journal Of Cancer
Qin, Zixin Z; Li, Jiaheng J; Tam, Benjamin B; Sinha, Siddharth S; Zhao, Bojin B; Bhaskaran, Shanmuga Priya SP; Huang, Teng T; Wu, Xiaobing X; Chian, Jia Sheng JS; Guo, Maoni M; Kou, Si Hoi SH; Lei, Huijun H; Zhang, Li L; Wang, Xiaoyu X; Lagniton, Philip Naderev P PNP; Xiao, Fengxia F; Jiang, Xinyang X; Wang, San Ming SM
Publication Date: 2022-11-17
Variant appearance in text: BRCA2: 2422G>T; Glu808*
PubMed Link:
36385461
Variant Present in the following documents:
IJC-152-1159-s006.xlsx, sheet 3
IJC-152-1159-s002.xlsx, sheet 2
View BVdb publication page
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: 2421delinsTT; Glu808Terfs
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_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: 2422G>T; Glu808X
PubMed Link:
32377563
Variant Present in the following documents:
41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
Cancer genetics: colorectal cancer as a model.
Journal Of Human Genetics
Bodmer, Walter F WF
Publication Date: 2006
Variant appearance in text: BRCA2: E808X
PubMed Link:
16596323
Variant Present in the following documents:
Main text
View BVdb publication page