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KCNH2 c.629T>C ;(p.L210P)
Variant ID: 7-150655434-A-G
NM_000238.3(
KCNH2
):c.629T>C;(p.L210P)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Automated Patch-Clamp and Induced Pluripotent Stem Cell-Derived Cardiomyocytes: A Synergistic Approach in the Study of Brugada Syndrome.
International Journal Of Molecular Sciences
Melgari, Dario D; Calamaio, Serena S; Frosio, Anthony A; Prevostini, Rachele R; Anastasia, Luigi L; Pappone, Carlo C; Rivolta, Ilaria I
Publication Date: 2023-04-03
Variant appearance in text: KCNH2: 629T>C; L210P
PubMed Link:
37047659
Variant Present in the following documents:
Main text
ijms-24-06687.pdf
View BVdb publication page
Studying Brugada Syndrome With an SCN1B Variants in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
Frontiers In Cell And Developmental Biology
El-Battrawy, Ibrahim I; Müller, Jonas J; Zhao, Zhihan Z; Cyganek, Lukas L; Zhong, Rujia R; Zhang, Feng F; Kleinsorge, Mandy M; Lan, Huan H; Li, Xin X; Xu, Qiang Q; Huang, Mengying M; Liao, Zhenxing Z; Moscu-Gregor, Alexander A; Albers, Sebastian S; Dinkel, Hendrik H; Lang, Siegfried S; Diecke, Sebastian S; Zimmermann, Wolfram-Hubertus WH; Utikal, Jochen J; Wieland, Thomas T; Borggrefe, Martin M; Zhou, Xiaobo X; Akin, Ibrahim I
Publication Date: 2019
Variant appearance in text: KCNH2: 629T>C; Leu210Pro
PubMed Link:
31737628
Variant Present in the following documents:
Main text
fcell-07-00261.pdf
View BVdb publication page