CFTR c.4120_4121delinsTG ;(p.A1374C)

Variant ID: 7-117304898-GC-TG

NM_000492.3(CFTR):c.4120_4121delinsTG;(p.A1374C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cysteine accessibility probes timing and extent of NBD separation along the dimer interface in gating CFTR channels.

The Journal Of General Physiology
Chaves, Luiz A Poletto LA; Gadsby, David C DC
Publication Date: 2015-04

Variant appearance in text: CFTR: A1374C
PubMed Link: 25825169
Variant Present in the following documents:
  • Main text
  • JGP_201411347.pdf
View BVdb publication page



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: A1374C
PubMed Link: 17036051
Variant Present in the following documents:
  • Main text
View BVdb publication page