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CFTR c.349_351delinsGAG ;(p.R117E)
Variant ID: 7-117171028-CGC-GAG
NM_000492.3(
CFTR
):c.349_351delinsGAG;(p.R117E)
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:
On the mechanism of gating defects caused by the R117H mutation in cystic fibrosis transmembrane conductance regulator.
The Journal Of Physiology
Yu, Ying-Chun YC; Sohma, Yoshiro Y; Hwang, Tzyh-Chang TC
Publication Date: 2016-06-15
Variant appearance in text: CFTR: R117E
PubMed Link:
26846474
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: R117E
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