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KCNH2 c.1496T>C ;(p.L499P)
Variant ID: 7-150649574-A-G
NM_000238.3(
KCNH2
):c.1496T>C;(p.L499P)
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:
Action potential clamp and pharmacology of the variant 1 Short QT Syndrome T618I hERG K⁺ channel.
Plos One
El Harchi, Aziza A; Melgari, Dario D; Zhang, Yi Hong YH; Zhang, Henggui H; Hancox, Jules C JC
Publication Date: 2012
Variant appearance in text: KCNH2: L499P
PubMed Link:
23300672
Variant Present in the following documents:
Main text
pone.0052451.pdf
View BVdb publication page
The hERG K(+) channel S4 domain L532P mutation: characterization at 37°C.
Biochimica Et Biophysica Acta
Zhang, Yi H YH; Colenso, Charlotte K CK; Sessions, Richard B RB; Dempsey, Christopher E CE; Hancox, Jules C JC
Publication Date: 2011-10
Variant appearance in text: LQT2: L499P
PubMed Link:
21777565
Variant Present in the following documents:
Main text
View BVdb publication page