CFTR c.4039_4040delinsGT ;(p.S1347V)

Variant ID: 7-117304817-AG-GT

NM_000492.3(CFTR):c.4039_4040delinsGT;(p.S1347V)

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:

Stable ATP binding mediated by a partial NBD dimer of the CFTR chloride channel.

The Journal Of General Physiology
Tsai, Ming-Feng MF; Li, Min M; Hwang, Tzyh-Chang TC
Publication Date: 2010-05

Variant appearance in text: CFTR: S1347V
PubMed Link: 20421370
Variant Present in the following documents:
  • Main text
  • JGP_201010399.pdf
View BVdb publication page