ESR1 c.778_779delinsGC ;(p.R260A)

Variant ID: 6-152265325-AG-GC

NM_000125.3(ESR1):c.778_779delinsGC;(p.R260A)

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:

Role of the [2Fe-2S]2+ cluster in biotin synthase: mutagenesis of the atypical metal ligand arginine 260.

Biochemistry
Broach, Robyn B RB; Jarrett, Joseph T JT
Publication Date: 2006-11-28

Variant appearance in text: ESR: R260A
PubMed Link: 17115711
Variant Present in the following documents:
  • Main text
View BVdb publication page