Bibliome.ai browser hg19
Search
About
Stats
FAQ
KCNH2 c.1612A>C ;(p.K538Q)
Variant ID: 7-150648869-T-G
NM_000238.3(
KCNH2
):c.1612A>C;(p.K538Q)
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: K538Q
PubMed Link:
29117522
Variant Present in the following documents:
Main text
View BVdb publication page
Functional interactions of voltage sensor charges with an S2 hydrophobic plug in hERG channels.
The Journal Of General Physiology
Cheng, Yen May YM; Hull, Christina M CM; Niven, Christine M CM; Qi, Ji J; Allard, Charlene R CR; Claydon, Tom W TW
Publication Date: 2013-09
Variant appearance in text: Kv11.1: K538Q
PubMed Link:
23980197
Variant Present in the following documents:
Main text
JGP_201310992.pdf
View BVdb publication page
Tryptophan scanning mutagenesis of the HERG K+ channel: the S4 domain is loosely packed and likely to be lipid exposed.
The Journal Of Physiology
Subbiah, Rajesh N RN; Kondo, Mari M; Campbell, Terence J TJ; Vandenberg, Jamie I JI
Publication Date: 2005-12-01
Variant appearance in text: HERG: K538Q
PubMed Link:
16166152
Variant Present in the following documents:
Main text
View BVdb publication page