KCNQ1 c.718_720delinsTGG ;(p.H240W)

Variant ID: 11-2593277-CAC-TGG

NM_000218.2(KCNQ1):c.718_720delinsTGG;(p.H240W)

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:

KCNE1 constrains the voltage sensor of Kv7.1 K+ channels.

Plos One
Shamgar, Liora L; Haitin, Yoni Y; Yisharel, Ilanit I; Malka, Eti E; Schottelndreier, Hella H; Peretz, Asher A; Paas, Yoav Y; Attali, Bernard B
Publication Date: 2008-04-09

Variant appearance in text: Kv7.1: H240W
PubMed Link: 18398469
Variant Present in the following documents:
  • Main text
  • pone.0001943.pdf
View BVdb publication page