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KCNQ1 c.969G>T ;(p.W323C)
Variant ID: 11-2604712-G-T
NM_000218.2(
KCNQ1
):c.969G>T;(p.W323C)
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:
Location of KCNE1 relative to KCNQ1 in the I(KS) potassium channel by disulfide cross-linking of substituted cysteines.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Chung, David Y DY; Chan, Priscilla J PJ; Bankston, John R JR; Yang, Lin L; Liu, Guoxia G; Marx, Steven O SO; Karlin, Arthur A; Kass, Robert S RS
Publication Date: 2009-01-20
Variant appearance in text: KCNQ1: W323C
PubMed Link:
19131515
Variant Present in the following documents:
Main text
View BVdb publication page