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KCNH2 c.1249_1250delinsGC ;(p.L417A)
Variant ID: 7-150649820-AG-GC
NM_000238.3(
KCNH2
):c.1249_1250delinsGC;(p.L417A)
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:
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: L417A
PubMed Link:
28705808
Variant Present in the following documents:
Main text
View BVdb publication page
The S1 helix critically regulates the finely tuned gating of Kv11.1 channels.
The Journal Of Biological Chemistry
Phan, Kevin K; Ng, Chai Ann CA; David, Erikka E; Shishmarev, Dmitry D; Kuchel, Philip W PW; Vandenberg, Jamie I JI; Perry, Matthew D MD
Publication Date: 2017-05-05
Variant appearance in text: Kv11.1: L417A
PubMed Link:
28280240
Variant Present in the following documents:
Main text
View BVdb publication page