SCN5A c.5753G>A ;(p.R1918H)

Variant ID: 3-38592107-C-T

NM_000335.4(SCN5A):c.5753G>A;(p.R1918H)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Calmodulin Interactions with Voltage-Gated Sodium Channels.

International Journal Of Molecular Sciences
Wu, Xin X; Hong, Liang L
Publication Date: 2021-09-10

Variant appearance in text: SCN5A: R1918H
PubMed Link: 34575961
Variant Present in the following documents:
  • Main text
  • ijms-22-09798.pdf
View BVdb publication page



The Crossroad of Ion Channels and Calmodulin in Disease.

International Journal Of Molecular Sciences
Urrutia, Janire J; Aguado, Alejandra A; Muguruza-Montero, Arantza A; Núñez, Eider E; Malo, Covadonga C; Casis, Oscar O; Villarroel, Alvaro A
Publication Date: 2019-01-18

Variant appearance in text: LQT3: R1918H
PubMed Link: 30669290
Variant Present in the following documents:
  • Main text
  • ijms-20-00400.pdf
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs141107387
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
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: R1918H
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
View BVdb publication page



Calmodulin limits pathogenic Na+ channel persistent current.

The Journal Of General Physiology
Yan, Haidun H; Wang, Chaojian C; Marx, Steven O SO; Pitt, Geoffrey S GS
Publication Date: 2017-02

Variant appearance in text: LQT3: R1918H
PubMed Link: 28087622
Variant Present in the following documents:
  • Main text
View BVdb publication page