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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.
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: 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