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KCNH2 c.43_44delinsTC ;(p.L15S)
Variant ID: 7-150674958-AG-GA
NM_000238.3(
KCNH2
):c.43_44delinsTC;(p.L15S)
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:
Role of the cytoplasmic N-terminal Cap and Per-Arnt-Sim (PAS) domain in trafficking and stabilization of Kv11.1 channels.
The Journal Of Biological Chemistry
Ke, Ying Y; Hunter, Mark J MJ; Ng, Chai Ann CA; Perry, Matthew D MD; Vandenberg, Jamie I JI
Publication Date: 2014-05-16
Variant appearance in text: Kv11.1: L15S
PubMed Link:
24695734
Variant Present in the following documents:
Main text
View BVdb publication page