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KCNH2 c.1885_1886delinsGC ;(p.N629A)
Variant ID: 7-150648595-TT-GC
NM_000238.3(
KCNH2
):c.1885_1886delinsGC;(p.N629A)
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:
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: N629A
PubMed Link:
31882846
Variant Present in the following documents:
Main text
41598_2019_Article_56081.pdf
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: N629A
PubMed Link:
24725272
Variant Present in the following documents:
2045-3701-4-18.pdf
View BVdb publication page