CFTR c.3742T>G ;(p.S1248A)

Variant ID: 7-117282516-T-G

NM_000492.3(CFTR):c.3742T>G;(p.S1248A)

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:

Mechanistic insight into control of CFTR by AMPK.

The Journal Of Biological Chemistry
Kongsuphol, Patthara P; Cassidy, Diane D; Hieke, Bernhard B; Treharne, Kate J KJ; Schreiber, Rainer R; Mehta, Anil A; Kunzelmann, Karl K
Publication Date: 2009-02-27

Variant appearance in text: CFTR: S1248A
PubMed Link: 19095655
Variant Present in the following documents:
  • Main text
  • 5645.pdf
View BVdb publication page