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KCNH2 c.1981_1982delinsTG ;(p.A661C)
Variant ID: 7-150648172-GC-CA
NM_000238.3(
KCNH2
):c.1981_1982delinsTG;(p.A661C)
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 determinants for activation of human ether-à-go-go-related gene 1 potassium channels by 3-nitro-n-(4-phenoxyphenyl) benzamide.
Molecular Pharmacology
Garg, Vivek V; Stary-Weinzinger, Anna A; Sachse, Frank F; Sanguinetti, Michael C MC
Publication Date: 2011-10
Variant appearance in text: KCNH2: A661C
PubMed Link:
21743002
Variant Present in the following documents:
Main text
View BVdb publication page
hERG gating microdomains defined by S6 mutagenesis and molecular modeling.
The Journal Of General Physiology
Wynia-Smith, Sarah L SL; Gillian-Daniel, Anne Lynn AL; Satyshur, Kenneth A KA; Robertson, Gail A GA
Publication Date: 2008-11
Variant appearance in text: KCNH2: A661C
PubMed Link:
18955593
Variant Present in the following documents:
jgp1320507.pdf
View BVdb publication page