Bibliome.ai browser hg19
Search
About
Stats
FAQ
ATM c.1660A>G ;(p.T554A)
Variant ID: 11-108122616-A-G
NM_000051.3(
ATM
):c.1660A>G;(p.T554A)
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:
Tyrosyl-DNA phosphodiesterases: rescuing the genome from the risks of relaxation.
Nucleic Acids Research
Kawale, Ajinkya S AS; Povirk, Lawrence F LF
Publication Date: 2018-01-25
Variant appearance in text: ATM: T554A
PubMed Link:
29216365
Variant Present in the following documents:
Main text
View BVdb publication page
Mitochondrial protein-linked DNA breaks perturb mitochondrial gene transcription and trigger free radical-induced DNA damage.
Science Advances
Chiang, Shih-Chieh SC; Meagher, Martin M; Kassouf, Nick N; Hafezparast, Majid M; McKinnon, Peter J PJ; Haywood, Rachel R; El-Khamisy, Sherif F SF
Publication Date: 2017-04
Variant appearance in text: ATM: T554A
PubMed Link:
28508041
Variant Present in the following documents:
1602506.pdf
View BVdb publication page