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KCNH2 c.1631A>C ;(p.E544A)
Variant ID: 7-150648850-T-G
NM_000238.3(
KCNH2
):c.1631A>C;(p.E544A)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Frontiers In Pharmacology
Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR
Publication Date: 2020
Variant appearance in text: LQT2: E544A
PubMed Link:
32431610
Variant Present in the following documents:
Main text
fphar-11-00550.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: E544A
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: E544A
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: E544A
PubMed Link:
22359612
Variant Present in the following documents:
Main text
pone.0031640.pdf
View BVdb publication page