ESR1 c.48T>G ;(p.H16Q)

Variant ID: 6-152129095-T-G

NM_000125.3(ESR1):c.48T>G;(p.H16Q)

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:

The E-loop is involved in hydrogen peroxide formation by the NADPH oxidase Nox4.

The Journal Of Biological Chemistry
Takac, Ina I; Schröder, Katrin K; Zhang, Leilei L; Lardy, Bernard B; Anilkumar, Narayana N; Lambeth, J David JD; Shah, Ajay M AM; Morel, Francoise F; Brandes, Ralf P RP
Publication Date: 2011-04-15

Variant appearance in text: ESR: H16Q
PubMed Link: 21343298
Variant Present in the following documents:
  • Main text
View BVdb publication page