CFTR c.2383T>G ;(p.S795A)

Variant ID: 7-117232604-T-G

NM_000492.3(CFTR):c.2383T>G;(p.S795A)

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:

Protein kinase A phosphorylation potentiates cystic fibrosis transmembrane conductance regulator gating by relieving autoinhibition on the stimulatory C terminus of the regulatory domain.

The Journal Of Biological Chemistry
Chen, Jeng-Haur JH
Publication Date: 2020-04-03

Variant appearance in text: CFTR: S795A
PubMed Link: 32102849
Variant Present in the following documents:
  • Main text
View BVdb publication page