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KCNH2 c.1783_1785delinsTGT ;(p.K595C)
Variant ID: 7-150648696-TTT-ACA
NM_000238.3(
KCNH2
):c.1783_1785delinsTGT;(p.K595C)
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:
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: K595C
PubMed Link:
28705808
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: K595C
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: K595C
PubMed Link:
12407082
Variant Present in the following documents:
Main text
20028687.pdf
View BVdb publication page