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KCNH2 c.1585_1586delinsTC ;(p.L529S)
Variant ID: 7-150648895-AG-GA
NM_000238.3(
KCNH2
):c.1585_1586delinsTC;(p.L529S)
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:
Functional and pharmacological characterization of an S5 domain hERG mutation associated with short QT syndrome.
Heliyon
Butler, Andrew A; Zhang, Yihong Y; Stuart, A Graham AG; Dempsey, Christopher E CE; Hancox, Jules C JC
Publication Date: 2019-04
Variant appearance in text: LQT2: L529S
PubMed Link:
31049424
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
Hydrophobic interactions between the voltage sensor and pore mediate inactivation in Kv11.1 channels.
The Journal Of General Physiology
Perry, Matthew D MD; Wong, Sophia S; Ng, Chai Ann CA; Vandenberg, Jamie I JI
Publication Date: 2013-09
Variant appearance in text: Kv11.1: L529S
PubMed Link:
23980196
Variant Present in the following documents:
Main text
JGP_201310975.pdf
supp_jgp.201310975_JGP_201310975_sm.pdf
View BVdb publication page