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KCNH2 c.1397A>C ;(p.D466A)
Variant ID: 7-150649673-T-G
NM_000238.3(
KCNH2
):c.1397A>C;(p.D466A)
This variant was identified in 4 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: D466A
PubMed Link:
28705808
Variant Present in the following documents:
Main text
View BVdb publication page
Molecular determinants of pentamidine-induced hERG trafficking inhibition.
Molecular Pharmacology
Dennis, Adrienne T AT; Wang, Lu L; Wan, Hanlin H; Nassal, Drew D; Deschenes, Isabelle I; Ficker, Eckhard E
Publication Date: 2012-02
Variant appearance in text: HERG: D466A
PubMed Link:
22046004
Variant Present in the following documents:
Main text
View BVdb publication page
Differences between ion binding to eag and HERG voltage sensors contribute to differential regulation of activation and deactivation gating.
Channels (Austin, Tex.)
Lin, Meng Chin A MC; Papazian, Diane M DM
Publication Date: 2007
Variant appearance in text: HERG: D466A
PubMed Link:
18690045
Variant Present in the following documents:
Main text
View BVdb publication page
Molecular mapping of a site for Cd2+-induced modification of human ether-à-go-go-related gene (hERG) channel activation.
The Journal Of Physiology
Fernandez, David D; Ghanta, Azad A; Kinard, Krista I KI; Sanguinetti, Michael C MC
Publication Date: 2005-09-15
Variant appearance in text: HERG: D466A
PubMed Link:
15975984
Variant Present in the following documents:
Main text
View BVdb publication page