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KCNQ1 c.955_957delinsTGT ;(p.V319C)
Variant ID: 11-2604698-GTG-TGT
NM_000218.2(
KCNQ1
):c.955_957delinsTGT;(p.V319C)
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:
External barium affects the gating of KCNQ1 potassium channels and produces a pore block via two discrete sites.
The Journal Of General Physiology
Gibor, Gilad G; Yakubovich, Daniel D; Peretz, Asher A; Attali, Bernard B
Publication Date: 2004-07
Variant appearance in text: KCNQ1: V319C
PubMed Link:
15226366
Variant Present in the following documents:
Main text
200409068.pdf
View BVdb publication page
Modulation of homomeric and heteromeric KCNQ1 channels by external acidification.
The Journal Of Physiology
Peretz, Asher A; Schottelndreier, Hella H; Aharon-Shamgar, Liora Ben LB; Attali, Bernard B
Publication Date: 2002-12-15
Variant appearance in text: KCNQ1: V319C
PubMed Link:
12482884
Variant Present in the following documents:
Main text
View BVdb publication page