KCNQ1 c.1108_1110delinsTGT ;(p.A370C)

Variant ID: 11-2606517-GCG-TGT

NM_000218.2(KCNQ1):c.1108_1110delinsTGT;(p.A370C)

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:

Identification of a protein-protein interaction between KCNE1 and the activation gate machinery of KCNQ1.

The Journal Of General Physiology
Lvov, Anatoli A; Gage, Steven D SD; Berrios, Virla M VM; Kobertz, William R WR
Publication Date: 2010-06

Variant appearance in text: KCNQ1: A370C
PubMed Link: 20479109
Variant Present in the following documents:
  • Main text
  • JGP_200910386.pdf
View BVdb publication page