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