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KCNH2 c.1705_1706delinsGC ;(p.Y569A)
Variant ID: 7-150648775-TA-GC
NM_000238.3(
KCNH2
):c.1705_1706delinsGC;(p.Y569A)
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: Y569A
PubMed Link:
28705808
Variant Present in the following documents:
Main text
View BVdb publication page
Molecular coupling in the human ether-a-go-go-related gene-1 (hERG1) K+ channel inactivation pathway.
The Journal Of Biological Chemistry
Ferrer, Tania T; Cordero-Morales, Julio F JF; Arias, Marcelo M; Ficker, Eckhard E; Medovoy, David D; Perozo, Eduardo E; Tristani-Firouzi, Martin M
Publication Date: 2011-11-11
Variant appearance in text: KCNH2: Y569A
PubMed Link:
21908602
Variant Present in the following documents:
Main text
View BVdb publication page