KCNQ1 c.438G>C ;(p.E146D)

Variant ID: 11-2549209-G-C

NM_000218.2(KCNQ1):c.438G>C;(p.E146D)

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:

Gating-related molecular motions in the extracellular domain of the IKs channel: implications for IKs channelopathy.

The Journal Of Membrane Biology
Wang, Yu Hong YH; Jiang, Min M; Xu, Xu Lin XL; Hsu, Kai-Ling KL; Zhang, Mei M; Tseng, Gea-Ny GN
Publication Date: 2011-02

Variant appearance in text: LQT1: E146D
PubMed Link: 21152909
Variant Present in the following documents:
  • Main text
View BVdb publication page