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KCNH2 c.1837A>G ;(p.T613A)
Variant ID: 7-150648644-T-C
NM_000238.3(
KCNH2
):c.1837A>G;(p.T613A)
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: T613A
PubMed Link:
32431610
Variant Present in the following documents:
Main text
fphar-11-00550.pdf
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: T613A
PubMed Link:
27807201
Variant Present in the following documents:
Main text
View BVdb publication page
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16
Variant appearance in text: KCNH2: T613A
PubMed Link:
27527004
Variant Present in the following documents:
srep31321-s3.xls, sheet 1
View BVdb publication page
Open conformation of hERG channel turrets revealed by a specific scorpion toxin BmKKx2.
Cell & Bioscience
Hu, You-Tian YT; Hu, Jun J; Li, Tian T; Wei, Jing-Jing JJ; Feng, Jing J; Du, Yi-Mei YM; Cao, Zhi-Jian ZJ; Li, Wen-Xin WX; Wu, Ying-Liang YL
Publication Date: 2014
Variant appearance in text: HERG: T613A
PubMed Link:
24725272
Variant Present in the following documents:
2045-3701-4-18.pdf
View BVdb publication page