HR c.2240G>T ;(p.R747L)

Variant ID: 8-21978705-C-A

NM_005144.4(HR):c.2240G>T;(p.R747L)

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:

DNA binding modes influence Rap1 activity in the regulation of telomere length and MRX functions at DNA ends.

Nucleic Acids Research
Bonetti, Diego D; Rinaldi, Carlo C; Vertemara, Jacopo J; Notaro, Marco M; Pizzul, Paolo P; Tisi, Renata R; Zampella, Giuseppe G; Longhese, Maria Pia MP
Publication Date: 2020-03-18

Variant appearance in text: HR: R747L
PubMed Link: 31879780
Variant Present in the following documents:
  • Main text
  • gkz1203.pdf
View BVdb publication page