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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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