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KCNH2 c.47A>C ;(p.D16A)
Variant ID: 7-150674955-T-G
NM_000238.3(
KCNH2
):c.47A>C;(p.D16A)
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: D16A
PubMed Link:
32431610
Variant Present in the following documents:
Main text
View BVdb publication page
Molecular Pathophysiology of Congenital Long QT Syndrome.
Physiological Reviews
Bohnen, M S MS; Peng, G G; Robey, S H SH; Terrenoire, C C; Iyer, V V; Sampson, K J KJ; Kass, R S RS
Publication Date: 2017-01
Variant appearance in text: LQT2: D16A
PubMed Link:
27807201
Variant Present in the following documents:
Main text
View BVdb publication page
Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.
Nature Communications
Anderson, Corey L CL; Kuzmicki, Catherine E CE; Childs, Ryan R RR; Hintz, Caleb J CJ; Delisle, Brian P BP; January, Craig T CT
Publication Date: 2014-11-24
Variant appearance in text: LQT2: D16A
PubMed Link:
25417810
Variant Present in the following documents:
Main text
nihms634670.pdf
View BVdb publication page
Voltage-sensing domain mode shift is coupled to the activation gate by the N-terminal tail of hERG channels.
The Journal Of General Physiology
Tan, Peter S PS; Perry, Matthew D MD; Ng, Chai Ann CA; Vandenberg, Jamie I JI; Hill, Adam P AP
Publication Date: 2012-09
Variant appearance in text: HERG: D16A
PubMed Link:
22891279
Variant Present in the following documents:
supp_jgp.201110761_JGP_201110761_sm.pdf
View BVdb publication page