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KCNH2 c.1774_1776delinsTGT ;(p.Q592C)
Variant ID: 7-150648705-CTG-ACA
NM_000238.3(
KCNH2
):c.1774_1776delinsTGT;(p.Q592C)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Probing the outer mouth structure of the HERG channel with peptide toxin footprinting and molecular modeling.
Biophysical Journal
Tseng, Gea-Ny GN; Sonawane, Kailas D KD; Korolkova, Yuliya V YV; Zhang, Mei M; Liu, Jie J; Grishin, Eugene V EV; Guy, H Robert HR
Publication Date: 2007-05-15
Variant appearance in text: HERG: Q592C
PubMed Link:
17293393
Variant Present in the following documents:
Main text
View BVdb publication page
BeKm-1 is a HERG-specific toxin that shares the structure with ChTx but the mechanism of action with ErgTx1.
Biophysical Journal
Zhang, Mei M; Korolkova, Yuliya V YV; Liu, Jie J; Jiang, Min M; Grishin, Eugene V EV; Tseng, Gea-Ny GN
Publication Date: 2003-05
Variant appearance in text: HERG: Q592C
PubMed Link:
12719233
Variant Present in the following documents:
Main text
View BVdb publication page
Structural and functional role of the extracellular s5-p linker in the HERG potassium channel.
The Journal Of General Physiology
Liu, Jie J; Zhang, Mei M; Jiang, Min M; Tseng, Gea-Ny GN
Publication Date: 2002-11
Variant appearance in text: HERG: Q592C
PubMed Link:
12407082
Variant Present in the following documents:
Main text
20028687.pdf
View BVdb publication page