CFTR c.1768_1769delinsGC ;(p.C590A)

Variant ID: 7-117231989-TG-GC

NM_000492.3(CFTR):c.1768_1769delinsGC;(p.C590A)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

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: C590A
PubMed Link: 17036051
Variant Present in the following documents:
  • Main text
View BVdb publication page