CFTR c.2134T>G ;(p.S712A)

Variant ID: 7-117232355-T-G

NM_000492.3(CFTR):c.2134T>G;(p.S712A)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

PKC regulation of ion channels: The involvement of PIP2.

The Journal Of Biological Chemistry
Gada, Kirin D KD; Logothetis, Diomedes E DE
Publication Date: 2022-06

Variant appearance in text: CFTR: S712A
PubMed Link: 35588786
Variant Present in the following documents:
  • Main text
View BVdb publication page


Role of tyrosine phosphorylation in the muscarinic activation of the cystic fibrosis transmembrane conductance regulator (CFTR).

The Journal Of Biological Chemistry
Billet, Arnaud A; Luo, Yishan Y; Balghi, Haouaria H; Hanrahan, John W JW
Publication Date: 2013-07-26

Variant appearance in text: CFTR: S712A
PubMed Link: 23760269
Variant Present in the following documents:
  • Main text
View BVdb publication page