CFTR c.1651G>T ;(p.G551C)

Variant ID: 7-117227859-G-T

NM_000492.3(CFTR):c.1651G>T;(p.G551C)

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:

Gating of the CFTR Cl- channel by ATP-driven nucleotide-binding domain dimerisation.

The Journal Of Physiology
Hwang, Tzyh-Chang TC; Sheppard, David N DN
Publication Date: 2009-05-15

Variant appearance in text: CFTR: G551C
PubMed Link: 19332488
Variant Present in the following documents:
  • Main text
View BVdb publication page


Mutations at the signature sequence of CFTR create a Cd(2+)-gated chloride channel.

The Journal Of General Physiology
Wang, Xiaohui X; Bompadre, Silvia G SG; Li, Min M; Hwang, Tzyh-Chang TC
Publication Date: 2009-01

Variant appearance in text: CFTR: G551C
PubMed Link: 19114635
Variant Present in the following documents:
  • Main text
  • jgp1330069.pdf
View BVdb publication page