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SCN5A c.629T>C ;(p.V210A)
Variant ID: 3-38655308-A-G
NM_000335.4(
SCN5A
):c.629T>C;(p.V210A)
This variant was identified in 6 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: SCN5A: 629T>C
PubMed Link:
37047659
Variant Present in the following documents:
Main text
ijms-24-06687.pdf
View BVdb publication page
Brugada Syndrome: Different Experimental Models and the Role of Human Cardiomyocytes From Induced Pluripotent Stem Cells.
Journal Of The American Heart Association
Li, Yingrui Y; Lang, Siegfried S; Akin, Ibrahim I; Zhou, Xiaobo X; El-Battrawy, Ibrahim I
Publication Date: 2022-04-05
Variant appearance in text: SCN5A: 629T>C
PubMed Link:
35322667
Variant Present in the following documents:
Main text
JAH3-11-e024410.pdf
View BVdb publication page
iPSC-Cardiomyocyte Models of Brugada Syndrome-Achievements, Challenges and Future Perspectives.
International Journal Of Molecular Sciences
Nijak, Aleksandra A; Saenen, Johan J; Labro, Alain J AJ; Schepers, Dorien D; Loeys, Bart L BL; Alaerts, Maaike M
Publication Date: 2021-03-10
Variant appearance in text: SCN5A: 629T>C
PubMed Link:
33802229
Variant Present in the following documents:
Main text
ijms-22-02825.pdf
View BVdb publication page
Functional modulation of the human voltage-gated sodium channel NaV1.8 by auxiliary β subunits.
Channels (Austin, Tex.)
Nevin, S T ST; Lawrence, N N; Nicke, A A; Lewis, R J RJ; Adams, D J DJ
Publication Date: 2021-12
Variant appearance in text: Nav1.5: V210A
PubMed Link:
33315536
Variant Present in the following documents:
KCHL_15_1860399.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: SCN5A: 629T>C
PubMed Link:
31737628
Variant Present in the following documents:
Main text
fcell-07-00261.pdf
View BVdb publication page
SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients.
Scientific Reports
Ricci, Maria Teresa MT; Menegon, Silvia S; Vatrano, Simona S; Mandrile, Giorgia G; Cerrato, Natascia N; Carvalho, Paula P; De Marchi, Mario M; Gaita, Fiorenzo F; Giustetto, Carla C; Giachino, Daniela Francesca DF
Publication Date: 2014-09-25
Variant appearance in text: SCN5A: 629T>C
PubMed Link:
25253298
Variant Present in the following documents:
Main text
View BVdb publication page