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ATM c.3271G>A ;(p.E1091K)
Variant ID: 11-108143566-G-A
NM_000051.3(
ATM
):c.3271G>A;(p.E1091K)
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:
A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.
Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01
Variant appearance in text: ATM: E1091K
PubMed Link:
34963661
Variant Present in the following documents:
supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page
DNA mismatch repair and the DNA damage response.
Dna Repair
Li, Zhongdao Z; Pearlman, Alexander H AH; Hsieh, Peggy P
Publication Date: 2016-02
Variant appearance in text: ATM: E1091K
PubMed Link:
26704428
Variant Present in the following documents:
Main text
View BVdb publication page