ATM c.387A>T ;(p.K129N)

Variant ID: 11-108106452-A-T

NM_000051.3(ATM):c.387A>T;(p.K129N)

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:

A sharp Pif1-dependent threshold separates DNA double-strand breaks from critically short telomeres.

Elife
Strecker, Jonathan J; Stinus, Sonia S; Caballero, Mariana Pliego MP; Szilard, Rachel K RK; Chang, Michael M; Durocher, Daniel D
Publication Date: 2017-08-03

Variant appearance in text: TEL1: K129N
PubMed Link: 28826474
Variant Present in the following documents:
  • Main text
  • elife-23783.pdf
View BVdb publication page