CFTR c.1202_1203delinsAT ;(p.W401Y)

Variant ID: 7-117182155-GG-AT

NM_000492.3(CFTR):c.1202_1203delinsAT;(p.W401Y)

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:

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: W401Y
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: W401Y
PubMed Link: 20421370
Variant Present in the following documents:
  • Main text
  • JGP_201010399.pdf
View BVdb publication page