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KCNH2 c.1609_1610delinsGC ;(p.R537A)
Variant ID: 7-150648871-CG-GC
NM_000238.3(
KCNH2
):c.1609_1610delinsGC;(p.R537A)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The Fast Component of hERG Gating Charge: An Interaction between D411 in the S1 and S4 Residues.
Biophysical Journal
Dou, Ying Y; Macdonald, Logan C LC; Wu, Yue Y; Fedida, David D
Publication Date: 2017-11-07
Variant appearance in text: Kv11.1: R537A
PubMed Link:
29117522
Variant Present in the following documents:
Main text
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: R537A
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: R537A
PubMed Link:
23980196
Variant Present in the following documents:
supp_jgp.201310975_JGP_201310975_sm.pdf
View BVdb publication page