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