KCNH2 c.1958C>A ;(p.A653D)

Variant ID: 7-150648196-G-T

NM_000238.3(KCNH2):c.1958C>A;(p.A653D)

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:

A highly conserved alanine in the S6 domain of the hERG1 K+ channel is required for normal gating.

Cellular Physiology And Biochemistry : International Journal Of Experimental Cellular Physiology, Biochemistry, And Pharmacology
Brown, Scott S; Sonntag, David P DP; Sanguinetti, Michael C MC
Publication Date: 2008

Variant appearance in text: KCNH2: A653D
PubMed Link: 19088442
Variant Present in the following documents:
  • Main text
View BVdb publication page