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CFTR c.1690_1692delinsTGT ;(p.K564C)
Variant ID: 7-117230417-AAA-TGT
NM_000492.3(
CFTR
):c.1690_1692delinsTGT;(p.K564C)
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:
Restoration of domain folding and interdomain assembly by second-site suppressors of the DeltaF508 mutation in CFTR.
Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
He, Lihua L; Aleksandrov, Luba A LA; Cui, Liying L; Jensen, Timothy J TJ; Nesbitt, Kenneth L KL; Riordan, John R JR
Publication Date: 2010-08
Variant appearance in text: CFTR: K564C
PubMed Link:
20233947
Variant Present in the following documents:
Main text
View BVdb publication page
Phenylalanine-508 mediates a cytoplasmic-membrane domain contact in the CFTR 3D structure crucial to assembly and channel function.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Serohijos, Adrian W R AW; Hegedus, Tamás T; Aleksandrov, Andrei A AA; He, Lihua L; Cui, Liying L; Dokholyan, Nikolay V NV; Riordan, John R JR
Publication Date: 2008-03-04
Variant appearance in text: CFTR: K564C
PubMed Link:
18305154
Variant Present in the following documents:
Main text
View BVdb publication page