KCNQ1 c.969G>C ;(p.W323C)

Variant ID: 11-2604712-G-C

NM_000218.2(KCNQ1):c.969G>C;(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