ATM c.1561_1563delinsTGT ;(p.R521C)

Variant ID: 11-108121753-AGA-TGT

NM_000051.3(ATM):c.1561_1563delinsTGT;(p.R521C)

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:

Genome integrity and disease prevention in the nervous system.

Genes & Development
McKinnon, Peter J PJ
Publication Date: 2017-06-15

Variant appearance in text: ATM: R521C
PubMed Link: 28765160
Variant Present in the following documents:
  • 1180.pdf
View BVdb publication page


TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration.

Human Molecular Genetics
Lagier-Tourenne, Clotilde C; Polymenidou, Magdalini M; Cleveland, Don W DW
Publication Date: 2010-04-15

Variant appearance in text: ATM: R521C
PubMed Link: 20400460
Variant Present in the following documents:
  • Main text
View BVdb publication page