CFTR c.3430_3432delinsTGT ;(p.Q1144C)

Variant ID: 7-117254729-CAG-TGT

NM_000492.3(CFTR):c.3430_3432delinsTGT;(p.Q1144C)

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:

Metal bridges illuminate transmembrane domain movements during gating of the cystic fibrosis transmembrane conductance regulator chloride channel.

The Journal Of Biological Chemistry
El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2014-10-10

Variant appearance in text: CFTR: Q1144C
PubMed Link: 25143385
Variant Present in the following documents:
  • Main text
View BVdb publication page


Structural basis for the channel function of a degraded ABC transporter, CFTR (ABCC7).

The Journal Of General Physiology
Bai, Yonghong Y; Li, Min M; Hwang, Tzyh-Chang TC
Publication Date: 2011-11

Variant appearance in text: CFTR: Q1144C
PubMed Link: 22042986
Variant Present in the following documents:
  • Main text
  • JGP_201110705.pdf
View BVdb publication page