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CFTR c.649_651delinsTGT ;(p.E217C)
Variant ID: 7-117175371-GAG-TGT
NM_000492.3(
CFTR
):c.649_651delinsTGT;(p.E217C)
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:
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: E217C
PubMed Link:
25024266
Variant Present in the following documents:
supp_jgp.201311122_JGP_201311122_sm.pdf
View BVdb publication page
Modeling the conformational changes underlying channel opening in CFTR.
Plos One
Rahman, Kazi S KS; Cui, Guiying G; Harvey, Stephen C SC; McCarty, Nael A NA
Publication Date: 2013
Variant appearance in text: CFTR: E217C
PubMed Link:
24086355
Variant Present in the following documents:
Main text
pone.0074574.pdf
View BVdb publication page