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CFTR c.328_329delinsTG ;(p.D110C)
Variant ID: 7-117171007-GA-TG
NM_000492.3(
CFTR
):c.328_329delinsTG;(p.D110C)
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: D110C
PubMed Link:
29581173
Variant Present in the following documents:
JGP_201711946_TableS1.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: D110C
PubMed Link:
26684250
Variant Present in the following documents:
Main text
View BVdb publication page
Three charged amino acids in extracellular loop 1 are involved in maintaining the outer pore architecture of CFTR.
The Journal Of General Physiology
Cui, Guiying G; Rahman, Kazi S KS; Infield, Daniel T DT; Kuang, Christopher C; Prince, Chengyu Z CZ; McCarty, Nael A NA
Publication Date: 2014-08
Variant appearance in text: CFTR: D110C
PubMed Link:
25024266
Variant Present in the following documents:
Main text
supp_jgp.201311122_JGP_201311122_sm.pdf
JGP_201311122.pdf
View BVdb publication page