Bibliome.ai browser hg19
Search
About
Stats
FAQ
ATM c.986G>A ;(p.R329K)
Variant ID: 11-108117775-G-A
NM_000051.3(
ATM
):c.986G>A;(p.R329K)
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 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: 986G>A; R329K; rs776938735
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.
Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07
Variant appearance in text: ATM: 986G>A; R329K
PubMed Link:
31925297
Variant Present in the following documents:
42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page