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CFTR c.319_320delinsTG ;(p.A107C)
Variant ID: 7-117170998-GC-TG
NM_000492.3(
CFTR
):c.319_320delinsTG;(p.A107C)
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: A107C
PubMed Link:
29581173
Variant Present in the following documents:
Main text
JGP_201711946.pdf
View BVdb publication page
Positioning of extracellular loop 1 affects pore gating of the cystic fibrosis transmembrane conductance regulator.
American Journal Of Physiology. Lung Cellular And Molecular Physiology
Infield, Daniel T DT; Cui, Guiying G; Kuang, Christopher C; McCarty, Nael A NA
Publication Date: 2016-03-01
Variant appearance in text: CFTR: A107C
PubMed Link:
26684250
Variant Present in the following documents:
Main text
View BVdb publication page
Cysteine scanning of CFTR's first transmembrane segment reveals its plausible roles in gating and permeation.
Biophysical Journal
Gao, Xiaolong X; Bai, Yonghong Y; Hwang, Tzyh-Chang TC
Publication Date: 2013-02-19
Variant appearance in text: CFTR: A107C
PubMed Link:
23442957
Variant Present in the following documents:
Main text
View BVdb publication page