Bibliome.ai browser hg19
Search
About
Stats
FAQ
KCNH2 c.1621_1622delinsGC ;(p.R541A)
Variant ID: 7-150648859-CG-GC
NM_000238.3(
KCNH2
):c.1621_1622delinsGC;(p.R541A)
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:
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: R541A
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: R541A
PubMed Link:
27317659
Variant Present in the following documents:
Main text
View BVdb publication page
Direct interaction of eag domains and cyclic nucleotide-binding homology domains regulate deactivation gating in hERG channels.
The Journal Of General Physiology
Gianulis, Elena C EC; Liu, Qiangni Q; Trudeau, Matthew C MC
Publication Date: 2013-10
Variant appearance in text: HERG: R541A
PubMed Link:
24043860
Variant Present in the following documents:
JGP_201310995.pdf
View BVdb publication page
The S4-S5 linker acts as a signal integrator for HERG K+ channel activation and deactivation gating.
Plos One
Ng, Chai Ann CA; Perry, Matthew D MD; Tan, Peter S PS; Hill, Adam P AP; Kuchel, Philip W PW; Vandenberg, Jamie I JI
Publication Date: 2012
Variant appearance in text: HERG: R541A
PubMed Link:
22359612
Variant Present in the following documents:
Main text
pone.0031640.pdf
View BVdb publication page
Thermodynamic and kinetic properties of amino-terminal and S4-S5 loop HERG channel mutants under steady-state conditions.
Biophysical Journal
Alonso-Ron, Carlos C; de la Peña, Pilar P; Miranda, Pablo P; Domínguez, Pedro P; Barros, Francisco F
Publication Date: 2008-05-15
Variant appearance in text: HERG: R541A
PubMed Link:
18222997
Variant Present in the following documents:
Main text
View BVdb publication page