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ATM c.2516A>C ;(p.E839A)
Variant ID: 11-108137947-A-C
NM_000051.3(
ATM
):c.2516A>C;(p.E839A)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Crystal structure of the INTS3/INTS6 complex reveals the functional importance of INTS3 dimerization in DSB repair.
Cell Discovery
Jia, Yu Y; Cheng, Zixiu Z; Bharath, Sakshibeedu R SR; Sun, Qiangzu Q; Su, Nannan N; Huang, Jun J; Song, Haiwei H
Publication Date: 2021-08-17
Variant appearance in text: ATM: E839A
PubMed Link:
34400606
Variant Present in the following documents:
41421_2021_Article_283.pdf
View BVdb publication page