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