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CFTR c.2923_2925delinsTGT ;(p.R975C)
Variant ID: 7-117246742-AGA-TGT
NM_000492.3(
CFTR
):c.2923_2925delinsTGT;(p.R975C)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Structural mechanisms of CFTR function and dysfunction.
The Journal Of General Physiology
Hwang, Tzyh-Chang TC; Yeh, Jiunn-Tyng JT; Zhang, Jingyao J; Yu, Ying-Chun YC; Yeh, Han-I HI; Destefano, Samantha S
Publication Date: 2018-04-02
Variant appearance in text: CFTR: R975C
PubMed Link:
29581173
Variant Present in the following documents:
JGP_201711946_TableS1.pdf
View BVdb publication page
Functional Architecture of the Cytoplasmic Entrance to the Cystic Fibrosis Transmembrane Conductance Regulator Chloride Channel Pore.
The Journal Of Biological Chemistry
El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2015-06-19
Variant appearance in text: CFTR: R975C
PubMed Link:
25944907
Variant Present in the following documents:
Main text
View BVdb publication page
Role of the juxtamembrane region of cytoplasmic loop 3 in the gating and conductance of the cystic fibrosis transmembrane conductance regulator chloride channel.
Biochemistry
El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2012-05-15
Variant appearance in text: CFTR: R975C
PubMed Link:
22545782
Variant Present in the following documents:
Main text
bi300065z_si_001.pdf
bi300065z.pdf
View BVdb publication page