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ATM c.3708T>G ;(p.F1236L)
Variant ID: 11-108153568-T-G
NM_000051.3(
ATM
):c.3708T>G;(p.F1236L)
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: F1236L
PubMed Link:
34963661
Variant Present in the following documents:
supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
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: ATM: F1236L
PubMed Link:
34253785
Variant Present in the following documents:
Main text
41598_2021_Article_93715.pdf
41598_2021_93715_MOESM2_ESM.xlsx, sheet 2
41598_2021_93715_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page