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KCNH2 c.1657_1658delinsGC ;(p.L553A)
Variant ID: 7-150648823-AG-GC
NM_000238.3(
KCNH2
):c.1657_1658delinsGC;(p.L553A)
This variant was identified in 4 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: L553A
PubMed Link:
28705808
Variant Present in the following documents:
Main text
View BVdb publication page
C-Linker Accounts for Differential Sensitivity of ERG1 and ERG2 K+ Channels to RPR260243-Induced Slow Deactivation.
Molecular Pharmacology
Gardner, Alison A; Sanguinetti, Michael C MC
Publication Date: 2015-07
Variant appearance in text: KCNH2: L553A
PubMed Link:
25888115
Variant Present in the following documents:
Main text
View BVdb publication page
Concatenated hERG1 tetramers reveal stoichiometry of altered channel gating by RPR-260243.
Molecular Pharmacology
Wu, Wei W; Gardner, Alison A; Sanguinetti, Michael C MC
Publication Date: 2015
Variant appearance in text: KCNH2: L553A
PubMed Link:
25519838
Variant Present in the following documents:
Main text
View BVdb publication page
Structural basis of action for a human ether-a-go-go-related gene 1 potassium channel activator.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Perry, Matthew M; Sachse, Frank B FB; Sanguinetti, Michael C MC
Publication Date: 2007-08-21
Variant appearance in text: KCNH2: L553A
PubMed Link:
17693551
Variant Present in the following documents:
Main text
View BVdb publication page