CFTR c.1769G>T ;(p.C590F)

Variant ID: 7-117231990-G-T

NM_000492.3(CFTR):c.1769G>T;(p.C590F)

This variant was identified in 1 publication

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: C590F
PubMed Link: 17036051
Variant Present in the following documents:
  • Main text
View BVdb publication page