KCNQ1 c.817_819delinsTGG ;(p.L273W)

Variant ID: 11-2594112-CTC-TGG

NM_000218.2(KCNQ1):c.817_819delinsTGG;(p.L273W)

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:

An inactivation gate in the selectivity filter of KCNQ1 potassium channels.

Biophysical Journal
Gibor, Gilad G; Yakubovich, Daniel D; Rosenhouse-Dantsker, Avia A; Peretz, Asher A; Schottelndreier, Hella H; Seebohm, Guiscard G; Dascal, Nathan N; Logothetis, Diomedes E DE; Paas, Yoav Y; Attali, Bernard B
Publication Date: 2007-12-15

Variant appearance in text: KCNQ1: L273W
PubMed Link: 17704175
Variant Present in the following documents:
  • Main text
View BVdb publication page