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KCNH2 c.1268T>C ;(p.V423A)
Variant ID: 7-150649802-A-G
NM_000238.3(
KCNH2
):c.1268T>C;(p.V423A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Molecular Basis of Altered hERG1 Channel Gating Induced by Ginsenoside Rg3.
Molecular Pharmacology
Gardner, Alison A; Wu, Wei W; Thomson, Steven S; Zangerl-Plessl, Eva-Maria EM; Stary-Weinzinger, Anna A; Sanguinetti, Michael C MC
Publication Date: 2017-10
Variant appearance in text: KCNH2: V423A
PubMed Link:
28705808
Variant Present in the following documents:
Main text
View BVdb publication page
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: V423A
PubMed Link:
23048023
Variant Present in the following documents:
Main text
View BVdb publication page