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KCNH2 c.1678_1679delinsGC ;(p.I560A)
Variant ID: 7-150648802-AT-GC
NM_000238.3(
KCNH2
):c.1678_1679delinsGC;(p.I560A)
This variant was identified in 5 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: I560A
PubMed Link:
31049424
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
Tyrosine Residues from the S4-S5 Linker of Kv11.1 Channels Are Critical for Slow Deactivation.
The Journal Of Biological Chemistry
Ng, Chai-Ann CA; Gravel, Andrée E AE; Perry, Matthew D MD; Arnold, Alexandre A AA; Marcotte, Isabelle I; Vandenberg, Jamie I JI
Publication Date: 2016-08-12
Variant appearance in text: Kv11.1: I560A
PubMed Link:
27317659
Variant Present in the following documents:
Main text
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: I560A
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
Pore helices play a dynamic role as integrators of domain motion during Kv11.1 channel inactivation gating.
The Journal Of Biological Chemistry
Perry, Matthew D MD; Ng, Chai Ann CA; Vandenberg, Jamie I JI
Publication Date: 2013-04-19
Variant appearance in text: Kv11.1: I560A
PubMed Link:
23471968
Variant Present in the following documents:
Main text
View BVdb publication page
Molecular determinants of human ether-à-go-go-related gene 1 (hERG1) K+ channel activation by NS1643.
Molecular Pharmacology
Grunnet, Morten M; Abbruzzese, Jennifer J; Sachse, Frank B FB; Sanguinetti, Michael C MC
Publication Date: 2011-01
Variant appearance in text: LQT2: I560A
PubMed Link:
20876384
Variant Present in the following documents:
Main text
View BVdb publication page