SCN5A c.1540G>T ;(p.G514C)

Variant ID: 3-38645553-C-A

NM_000335.4(SCN5A):c.1540G>T;(p.G514C)

This variant was identified in 19 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: SCN5A: 1540G>T; Gly514Cys
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families.

Circulation. Genomic And Precision Medicine
Wijeyeratne, Yanushi D YD; Tanck, Michael W MW; Mizusawa, Yuka Y; Batchvarov, Velislav V; Barc, Julien J; Crotti, Lia L; Bos, J Martijn JM; Tester, David J DJ; Muir, Alison A; Veltmann, Christian C; Ohno, Seiko S; Page, Stephen P SP; Galvin, Joseph J; Tadros, Rafik R; Muggenthaler, Martina M; Raju, Hariharan H; Denjoy, Isabelle I; Schott, Jean-Jacques JJ; Gourraud, Jean-Baptiste JB; Skoric-Milosavljevic, Doris D; Nannenberg, Eline A EA; Redon, Richard R; Papadakis, Michael M; Kyndt, Florence F; Dagradi, Federica F; Castelletti, Silvia S; Torchio, Margherita M; Meitinger, Thomas T; Lichtner, Peter P; Ishikawa, Taisuke T; Wilde, Arthur A M AAM; Takahashi, Kazuhiro K; Sharma, Sanjay S; Roden, Dan M DM; Borggrefe, Martin M MM; McKeown, Pascal P PP; Shimizu, Wataru W; Horie, Minoru M; Makita, Naomasa N; Aiba, Takeshi T; Ackerman, Michael J MJ; Schwartz, Peter J PJ; Probst, Vincent V; Bezzina, Connie R CR; Behr, Elijah R ER
Publication Date: 2020-12

Variant appearance in text: SCN5A: 1540G>T; G514C
PubMed Link: 33164571
Variant Present in the following documents:
  • hcg-13-e002911-s001.pdf
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: SCN5A: G514C; rs137854606
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Predicting changes to INa from missense mutations in human SCN5A.

Scientific Reports
Clerx, Michael M; Heijman, Jordi J; Collins, Pieter P; Volders, Paul G A PGA
Publication Date: 2018-08-24

Variant appearance in text: SCN5A: G514C
PubMed Link: 30143662
Variant Present in the following documents:
  • 41598_2018_30577_MOESM1_ESM.pdf
View BVdb publication page



Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.

Journal Of Korean Medical Science
Son, Min-Jeong MJ; Kim, Min-Kyoung MK; Yang, Kyung-Moo KM; Choi, Byung-Ha BH; Lee, Bong Woo BW; Yoo, Seong Ho SH
Publication Date: 2018-08-06

Variant appearance in text: SCN5A: G514C
PubMed Link: 30079003
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dysfunctional Nav1.5 channels due to SCN5A mutations.

Experimental Biology And Medicine (Maywood, N.J.)
Han, Dan D; Tan, Hui H; Sun, Chaofeng C; Li, Guoliang G
Publication Date: 2018-06

Variant appearance in text: Nav1.5: G514C
PubMed Link: 29806494
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: SCN5A: 1540G>T; Gly514Cys
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Beyond the Electrocardiogram: Mutations in Cardiac Ion Channel Genes Underlie Nonarrhythmic Phenotypes.

Clinical Medicine Insights. Cardiology
Roston, Thomas M TM; Cunningham, Taylor T; Lehman, Anna A; Laksman, Zachary W ZW; Krahn, Andrew D AD; Sanatani, Shubhayan S
Publication Date: 2017

Variant appearance in text: SCN5A: G514C
PubMed Link: 28469493
Variant Present in the following documents:
  • f_SupplementaryMaterial_698134_8633.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: G514C
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
  • 13238_2017_Article_372.pdf
View BVdb publication page



Cardiac Na Channels: Structure to Function.

Current Topics In Membranes
DeMarco, K R KR; Clancy, C E CE
Publication Date: 2016

Variant appearance in text: ICCD: G514C
PubMed Link: 27586288
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutational analysis of SCN5A gene in long QT syndrome.

Meta Gene
Qureshi, Sameera Fatima SF; Ali, Altaf A; John, Princy P; Jadhav, Amol P AP; Venkateshwari, Ananthapur A; Rao, Hygriv H; Jayakrishnan, M P MP; Narasimhan, Calambur C; Shenthar, Jayaprakash J; Thangaraj, Kumarasamy K; Nallari, Pratibha P
Publication Date: 2015-12

Variant appearance in text: SCN5A: G514C
PubMed Link: 26401487
Variant Present in the following documents:
  • Main text
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: G514C
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



The genetic basis for inherited forms of sinoatrial dysfunction and atrioventricular node dysfunction.

Journal Of Interventional Cardiac Electrophysiology : An International Journal Of Arrhythmias And Pacing
Milanesi, Raffaella R; Bucchi, Annalisa A; Baruscotti, Mirko M
Publication Date: 2015-08

Variant appearance in text: LQT3: G514C
PubMed Link: 25863800
Variant Present in the following documents:
  • Main text
  • 10840_2015_Article_9998.pdf
View BVdb publication page



CaMKII-dependent regulation of cardiac Na(+) homeostasis.

Frontiers In Pharmacology
Grandi, Eleonora E; Herren, Anthony W AW
Publication Date: 2014

Variant appearance in text: SCN5A: G514C
PubMed Link: 24653702
Variant Present in the following documents:
  • Main text
  • fphar-05-00041.pdf
View BVdb publication page



Computational approaches to understand cardiac electrophysiology and arrhythmias.

American Journal Of Physiology. Heart And Circulatory Physiology
Roberts, Byron N BN; Yang, Pei-Chi PC; Behrens, Steven B SB; Moreno, Jonathan D JD; Clancy, Colleen E CE
Publication Date: 2012-10-01

Variant appearance in text: ICCD: G514C
PubMed Link: 22886409
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization of a novel Nav1.5 channel mutation, A551T, associated with Brugada syndrome.

Journal Of Biomedical Science
Chiang, Kun-Chi KC; Lai, Ling-Ping LP; Shieh, Ru-Chi RC
Publication Date: 2009-08-25

Variant appearance in text: Nav1.5: G514C
PubMed Link: 19706159
Variant Present in the following documents:
  • Main text
View BVdb publication page



Excitability constraints on voltage-gated sodium channels.

Plos Computational Biology
Angelino, Elaine E; Brenner, Michael P MP
Publication Date: 2007-09

Variant appearance in text: Nav1.5: G514C
PubMed Link: 17892320
Variant Present in the following documents:
  • pcbi.0030177.sd001.pdf
View BVdb publication page



Inherited disorders of voltage-gated sodium channels.

The Journal Of Clinical Investigation
George, Alfred L AL
Publication Date: 2005-08

Variant appearance in text: SCN5A: G514C
PubMed Link: 16075039
Variant Present in the following documents:
  • Main text
View BVdb publication page



A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation.

The Journal Of Clinical Investigation
Viswanathan, Prakash C PC; Benson, D Woodrow DW; Balser, Jeffrey R JR
Publication Date: 2003-02

Variant appearance in text: SCN5A: G514C
PubMed Link: 12569159
Variant Present in the following documents:
  • Main text
View BVdb publication page