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BRCA2 c.1069G>T ;(p.E357*)
Variant ID: 13-32906684-G-T
NM_000059.3(
BRCA2
):c.1069G>T;(p.E357*)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Characteristics of BRCA1/2 pathogenic germline mutations in chinese NSCLC patients and a comparison with HBOC.
Hereditary Cancer In Clinical Practice
Xu, Zheyuan Z; Wang, Yang Y; Wang, Lan L; Cui, Fengxian F; Zhang, Libin L; Xiong, Jian J; Peng, Hao H
Publication Date: 2021-02-09
Variant appearance in text: BRCA2: E357*
PubMed Link:
33563323
Variant Present in the following documents:
Main text
13053_2021_Article_174.pdf
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: 1069G>T; Glu357X
PubMed Link:
32377563
Variant Present in the following documents:
41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page