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KCNH2 c.1702_1704delinsATC ;(p.W568I)
Variant ID: 7-150648777-CCA-GAT
NM_000238.3(
KCNH2
):c.1702_1704delinsATC;(p.W568I)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: W568I
PubMed Link:
21908602
Variant Present in the following documents:
Main text
View BVdb publication page