ATM c.1039_1040delinsAG ;(p.E347R)

Variant ID: 11-108117828-GA-AG

NM_000051.3(ATM):c.1039_1040delinsAG;(p.E347R)

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:

Rif2 protects Rap1-depleted telomeres from MRX-mediated degradation in Saccharomyces cerevisiae.

Elife
Rosas Bringas, Fernando Rodrigo FR; Stinus, Sonia S; de Zoeten, Pien P; Cohn, Marita M; Chang, Michael M
Publication Date: 2022-01-19

Variant appearance in text: TEL1: E347R
PubMed Link: 35044907
Variant Present in the following documents:
  • Main text
View BVdb publication page