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ATM c.826A>C ;(p.K276Q)
Variant ID: 11-108115678-A-C
NM_000051.3(
ATM
):c.826A>C;(p.K276Q)
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: ATM: 826A>C; Lys276Gln
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Competitive evolution of NSCLC tumor clones and the drug resistance mechanism of first-generation EGFR-TKIs in Chinese NSCLC patients.
Heliyon
Deng, Qinfang Q; Xie, Boxiong B; Wu, Leilei L; Ji, Xianxiu X; Li, Chao C; Feng, Li L; Fang, Qiyu Q; Bao, Yuchen Y; Li, Jialu J; Jin, Shengnan S; Ding, Chunming C; Li, Yixue Y; Zhou, Songwen S
Publication Date: 2018-12
Variant appearance in text: ATM: K276Q
PubMed Link:
30603682
Variant Present in the following documents:
mmc2.xlsx, sheet 1
View BVdb publication page
A genome-wide scan of 10 000 gene-centric variants and colorectal cancer risk.
European Journal Of Human Genetics : Ejhg
Webb, Emily E; Broderick, Peter P; Lubbe, Steven S; Chandler, Ian I; Tomlinson, Ian I; Houlston, Richard S RS
Publication Date: 2009-11
Variant appearance in text: ATM: K276Q
PubMed Link:
19471308
Variant Present in the following documents:
Main text
View BVdb publication page