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KCNH2 c.1093_1094delinsAG ;(p.E365R)
Variant ID: 7-150654413-TC-CT
NM_000238.3(
KCNH2
):c.1093_1094delinsAG;(p.E365R)
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:
Electrophysiological characterization of the modified hERGT potassium channel used to obtain the first cryo-EM hERG structure.
Physiological Reports
Zhang, Yihong Y; Dempsey, Christopher E CE; Hancox, Jules C JC
Publication Date: 2020-10
Variant appearance in text: LQT2: E365R
PubMed Link:
33091232
Variant Present in the following documents:
Main text
PHY2-8-e14568.pdf
View BVdb publication page
Modulation of HERG gating by a charge cluster in the N-terminal proximal domain.
Biophysical Journal
Saenen, J B JB; Labro, A J AJ; Raes, A A; Snyders, D J DJ
Publication Date: 2006-12-15
Variant appearance in text: HERG: E365R
PubMed Link:
16997865
Variant Present in the following documents:
Main text
View BVdb publication page