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CFTR c.340_342delinsGAC ;(p.K114D)
Variant ID: 7-117171019-AAG-GAC
NM_000492.3(
CFTR
):c.340_342delinsGAC;(p.K114D)
This variant was identified in 1 publication
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: K114D
PubMed Link:
25024266
Variant Present in the following documents:
Main text
JGP_201311122.pdf
View BVdb publication page