HR c.2569_2571delinsTGA ;(p.R857*)

Variant ID: 8-21978268-ACG-TCA

NM_005144.4(HR):c.2569_2571delinsTGA;(p.R857*)

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:

Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation.

The Embo Journal
Batenburg, Nicole L NL; Thompson, Elizabeth L EL; Hendrickson, Eric A EA; Zhu, Xu-Dong XD
Publication Date: 2015-05-12

Variant appearance in text: HR: R857X
PubMed Link: 25820262
Variant Present in the following documents:
  • Main text
View BVdb publication page