SCN5A c.2042A>C ;(p.H681P)

Variant ID: 3-38639440-T-G

NM_000335.4(SCN5A):c.2042A>C;(p.H681P)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Genetic Characteristics and Transcriptional Regulation of Sodium Channel Related Genes in Chinese Patients With Brugada Syndrome.

Frontiers In Cardiovascular Medicine
Zhang, Ziguan Z; Chen, Hongwei H; Chen, Wenbo W; Zhang, Zhenghao Z; Li, Runjing R; Xu, Jiajia J; Yang, Cui C; Chen, Minwei M; Liu, Shixiao S; Li, Yanling Y; Wang, TzungDau T; Tu, Xin X; Huang, Zhengrong Z
Publication Date: 2021

Variant appearance in text: SCN5A: H681P
PubMed Link: 34422936
Variant Present in the following documents:
  • Main text
  • fcvm-08-714844.pdf
View BVdb publication page



Territory-wide cohort study of Brugada syndrome in Hong Kong: predictors of long-term outcomes using random survival forests and non-negative matrix factorisation.

Open Heart
Lee, Sharen S; Zhou, Jiandong J; Li, Ka Hou Christien KHC; Leung, Keith Sai Kit KSK; Lakhani, Ishan I; Liu, Tong T; Wong, Ian Chi Kei ICK; Mok, Ngai Shing NS; Mak, Chloe C; Jeevaratnam, Kamalan K; Zhang, Qingpeng Q; Tse, Gary G
Publication Date: 2021-02

Variant appearance in text: SCN5A: 2042A>C; H681P
PubMed Link: 33547222
Variant Present in the following documents:
  • openhrt-2020-001505supp001.pdf
View BVdb publication page



Long-term follow-up in patients with Brugada Syndrome in South China.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc
Zhao, Donghua D; Liang, Bo B; Peng, Jian J; Tang, Liangyu L; Su, Rongbin R; Luo, Lingli L; Deng, Bin B; Wang, Shuyuan S
Publication Date: 2021-05

Variant appearance in text: SCN5A: H681P
PubMed Link: 33417270
Variant Present in the following documents:
  • Main text
  • ANEC-26-e12823.pdf
View BVdb publication page



Identification of Novel SCN5A Single Nucleotide Variants in Brugada Syndrome: A Territory-Wide Study From Hong Kong.

Frontiers In Physiology
Tse, Gary G; Lee, Sharen S; Liu, Tong T; Yuen, Ho Chuen HC; Wong, Ian Chi Kei ICK; Mak, Chloe C; Mok, Ngai Shing NS; Wong, Wing Tak WT
Publication Date: 2020

Variant appearance in text: SCN5A: 2042A>C; H681P
PubMed Link: 33071830
Variant Present in the following documents:
  • Main text
  • fphys-11-574590.pdf
View BVdb publication page



Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell
Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N
Publication Date: 2017-06

Variant appearance in text: LQT3: H681P
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
  • 13238_2017_Article_372.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: LQT3: H681P
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: SCN5A: H681P
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



A novel SCN5A mutation V1340I in Brugada syndrome augmenting arrhythmias during febrile illness.

Heart Rhythm
Samani, Kaveh K; Wu, Geru G; Ai, Tomohiko T; Shuraih, Mossaab M; Mathuria, Nilesh S NS; Li, Zhaohui Z; Sohma, Yoshiro Y; Purevjav, Enkhsaikhan E; Xi, Yutao Y; Towbin, Jeffrey A JA; Cheng, Jie J; Vatta, Matteo M
Publication Date: 2009-09

Variant appearance in text: SCN5A: H681P
PubMed Link: 19648062
Variant Present in the following documents:
  • Main text
View BVdb publication page



May fever trigger ventricular fibrillation?

Indian Pacing And Electrophysiology Journal
Pasquié, Jean Luc JL
Publication Date: 2005-04-01

Variant appearance in text: SCN5A: H681P
PubMed Link: 16943953
Variant Present in the following documents:
  • Main text
  • ipej050139-00.pdf
View BVdb publication page