SCN5A c.5958C>G ;(p.N1986K)

Variant ID: 3-38591902-G-C

NM_000335.4(SCN5A):c.5958C>G;(p.N1986K)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Two Novel Functional Mutations in Promoter Region of SCN3B Gene Associated with Atrial Fibrillation.

Life (Basel, Switzerland)
Lin, Liyan L; Li, Ke K; Tian, Beijia B; Jia, Mengru M; Wang, Qianyan Q; Xu, Chengqi C; Xiong, Liang L; Wang, Qing K QK; Zeng, Yali Y; Wang, Pengyun P
Publication Date: 2022-11-05

Variant appearance in text: SCN5A: N1986K
PubMed Link: 36362949
Variant Present in the following documents:
  • Main text
  • life-12-01794.pdf
View BVdb publication page



Ca2+-dependent modulation of voltage-gated myocyte sodium channels.

Biochemical Society Transactions
Salvage, Samantha C SC; Habib, Zaki F ZF; Matthews, Hugh R HR; Jackson, Antony P AP; Huang, Christopher L-H CL
Publication Date: 2021-11-01

Variant appearance in text: LQT3: N1986K
PubMed Link: 34643236
Variant Present in the following documents:
  • Main text
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: N1986K
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Genetic Discoveries in Atrial Fibrillation and Implications for Clinical Practice.

Arrhythmia & Electrophysiology Review
Mahida, Saagar S
Publication Date: 2014-08

Variant appearance in text: SCN5A: N1986K
PubMed Link: 26835069
Variant Present in the following documents:
  • Main text
View BVdb publication page



Atrial Fibrillation and SCN5A Variants.

Cardiac Electrophysiology Clinics
Savio-Galimberti, Eleonora E; Darbar, Dawood D
Publication Date: 2014-12-01

Variant appearance in text: SCN5A: N1986K
PubMed Link: 25484998
Variant Present in the following documents:
  • Main text
View BVdb publication page



A contemporary review on the genetic basis of atrial fibrillation.

Methodist Debakey Cardiovascular Journal
Roberts, Jason D JD; Gollob, Michael H MH
Publication Date: 2014

Variant appearance in text: SCN5A: Asn1986Lys
PubMed Link: 24932358
Variant Present in the following documents:
  • Main text
View BVdb publication page



Monogenic atrial fibrillation as pathophysiological paradigms.

Cardiovascular Research
Mahida, Saagar S; Lubitz, Steven A SA; Rienstra, Michiel M; Milan, David J DJ; Ellinor, Patrick T PT
Publication Date: 2011-03-01

Variant appearance in text: SCN5A: N1986K
PubMed Link: 21123219
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cardiac sodium channel variants: action players with many faces.

Heart Rhythm
Darbar, Dawood D
Publication Date: 2008-10

Variant appearance in text: SCN5A: N1986K
PubMed Link: 18929332
Variant Present in the following documents:
  • Main text
View BVdb publication page