CFTR c.4042_4043delinsGG ;(p.H1348G)

Variant ID: 7-117304820-CA-GG

NM_000492.3(CFTR):c.4042_4043delinsGG;(p.H1348G)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The most common cystic fibrosis-associated mutation destabilizes the dimeric state of the nucleotide-binding domains of CFTR.

The Journal Of Physiology
Jih, Kang-Yang KY; Li, Min M; Hwang, Tzyh-Chang TC; Bompadre, Silvia G SG
Publication Date: 2011-06-01

Variant appearance in text: CFTR: H1348G
PubMed Link: 21486785
Variant Present in the following documents:
  • Main text
View BVdb publication page



Optimization of the degenerated interfacial ATP binding site improves the function of disease-related mutant cystic fibrosis transmembrane conductance regulator (CFTR) channels.

The Journal Of Biological Chemistry
Tsai, Ming-Feng MF; Jih, Kang-Yang KY; Shimizu, Hiroyasu H; Li, Min M; Hwang, Tzyh-Chang TC
Publication Date: 2010-11-26

Variant appearance in text: CFTR: H1348G
PubMed Link: 20861014
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: H1348G
PubMed Link: 20421370
Variant Present in the following documents:
  • Main text
  • JGP_201010399.pdf
View BVdb publication page