CFTR c.1384_1386delinsTGT ;(p.A462C)

Variant ID: 7-117188869-GCA-TGT

NM_000492.3(CFTR):c.1384_1386delinsTGT;(p.A462C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


In vivo phosphorylation of CFTR promotes formation of a nucleotide-binding domain heterodimer.

The Embo Journal
Mense, Martin M; Vergani, Paola P; White, Dennis M DM; Altberg, Gal G; Nairn, Angus C AC; Gadsby, David C DC
Publication Date: 2006-10-18

Variant appearance in text: CFTR: A462C
PubMed Link: 17036051
Variant Present in the following documents:
  • Main text
View BVdb publication page



Normal gating of CFTR requires ATP binding to both nucleotide-binding domains and hydrolysis at the second nucleotide-binding domain.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Berger, Allan L AL; Ikuma, Mutsuhiro M; Welsh, Michael J MJ
Publication Date: 2005-01-11

Variant appearance in text: CFTR: A462C
PubMed Link: 15623556
Variant Present in the following documents:
  • Main text
View BVdb publication page