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KCNH2 c.1648_1649delinsGC ;(p.L550A)
Variant ID: 7-150648832-AG-GC
NM_000238.3(
KCNH2
):c.1648_1649delinsGC;(p.L550A)
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:
The S4-S5 linker acts as a signal integrator for HERG K+ channel activation and deactivation gating.
Plos One
Ng, Chai Ann CA; Perry, Matthew D MD; Tan, Peter S PS; Hill, Adam P AP; Kuchel, Philip W PW; Vandenberg, Jamie I JI
Publication Date: 2012
Variant appearance in text: HERG: L550A
PubMed Link:
22359612
Variant Present in the following documents:
Main text
pone.0031640.pdf
View BVdb publication page
Molecular determinants of human ether-à-go-go-related gene 1 (hERG1) K+ channel activation by NS1643.
Molecular Pharmacology
Grunnet, Morten M; Abbruzzese, Jennifer J; Sachse, Frank B FB; Sanguinetti, Michael C MC
Publication Date: 2011-01
Variant appearance in text: LQT2: L550A
PubMed Link:
20876384
Variant Present in the following documents:
Main text
View BVdb publication page