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KCNH2 c.847_849delinsGAC ;(p.S283D)
Variant ID: 7-150655214-CGA-GTC
NM_000238.3(
KCNH2
):c.847_849delinsGAC;(p.S283D)
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:
Mechanisms underlying the protein-kinase mediated regulation of the HERG potassium channel synthesis.
Biochimica Et Biophysica Acta
Krishnan, Yamini Y; Li, Yan Y; Zheng, Renjian R; Kanda, Vikram V; McDonald, Thomas V TV
Publication Date: 2012-08
Variant appearance in text: HERG: S283D
PubMed Link:
22613764
Variant Present in the following documents:
Main text
View BVdb publication page