KCNH2 c.1246_1247delinsGC ;(p.L416A)

Variant ID: 7-150649823-AG-GC

NM_000238.3(KCNH2):c.1246_1247delinsGC;(p.L416A)

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 leucine zipper motif essential for gating of hyperpolarization-activated channels.

The Journal Of Biological Chemistry
Wemhöner, Konstantin K; Silbernagel, Nicole N; Marzian, Stefanie S; Netter, Michael F MF; Rinné, Susanne S; Stansfeld, Phillip J PJ; Decher, Niels N
Publication Date: 2012-11-23

Variant appearance in text: HERG: L416A
PubMed Link: 23048023
Variant Present in the following documents:
  • Main text
View BVdb publication page