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CFTR c.331C>G ;(p.P111A)
Variant ID: 7-117171010-C-G
NM_000492.3(
CFTR
):c.331C>G;(p.P111A)
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:
Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.
Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18
Variant appearance in text: CFTR: P111A; rs397508541
PubMed Link:
28716134
Variant Present in the following documents:
13073_2017_454_MOESM7_ESM.xlsx, sheet 1
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: P111A
PubMed Link:
25024266
Variant Present in the following documents:
Main text
JGP_201311122.pdf
View BVdb publication page