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KCNH2 c.1738G>A ;(p.D580N)
Variant ID: 7-150648743-C-T
NM_000238.3(
KCNH2
):c.1738G>A;(p.D580N)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Territory-Wide Chinese Cohort of Long QT Syndrome: Random Survival Forest and Cox Analyses.
Frontiers In Cardiovascular Medicine
Tse, Gary G; Lee, Sharen S; Zhou, Jiandong J; Liu, Tong T; Wong, Ian Chi Kei ICK; Mak, Chloe C; Mok, Ngai Shing NS; Jeevaratnam, Kamalan K; Zhang, Qingpeng Q; Cheng, Shuk Han SH; Wong, Wing Tak WT
Publication Date: 2021
Variant appearance in text: KCNH2: 1738G>A
PubMed Link:
33614747
Variant Present in the following documents:
Main text
fcvm-08-608592.pdf
View BVdb publication page
Identification of a proton sensor that regulates conductance and open time of single hERG channels.
Scientific Reports
Wilson, Stacey L SL; Dempsey, Christopher E CE; Hancox, Jules C JC; Marrion, Neil V NV
Publication Date: 2019-12-27
Variant appearance in text: KCNH2: D580N
PubMed Link:
31882846
Variant Present in the following documents:
Main text
41598_2019_Article_56081.pdf
View BVdb publication page