SCN5A c.414G>C ;(p.M138I)

Variant ID: 3-38663959-C-G

NM_000335.4(SCN5A):c.414G>C;(p.M138I)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Research progress of Nedd4L in cardiovascular diseases.

Cell Death Discovery
Li, Mohan M; Sun, Guozhe G; Wang, Pengbo P; Wang, Wenbin W; Cao, Kexin K; Song, Chunyu C; Sun, Yingxian Y; Zhang, Ying Y; Zhang, Naijin N
Publication Date: 2022-04-16

Variant appearance in text: SCN5A: M138I
PubMed Link: 35429991
Variant Present in the following documents:
  • Main text
  • 41420_2022_Article_1017.pdf
View BVdb publication page



Intersegment Contacts of Potentially Damaging Variants of Cardiac Sodium Channel.

Frontiers In Pharmacology
Korkosh, Vyacheslav S VS; Zaytseva, Anastasia K AK; Kostareva, Anna A AA; Zhorov, Boris S BS
Publication Date: 2021

Variant appearance in text: Nav1.5: M138I
PubMed Link: 34803699
Variant Present in the following documents:
  • fphar-12-756415.pdf
View BVdb publication page



Atrial fibrillation-a complex polygenetic disease.

European Journal Of Human Genetics : Ejhg
Andersen, Julie H JH; Andreasen, Laura L; Olesen, Morten S MS
Publication Date: 2021-07

Variant appearance in text: SCN5A: 414G>C; Met138Ile
PubMed Link: 33279945
Variant Present in the following documents:
  • 41431_2020_784_MOESM3_ESM.xlsx, sheet 1
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: CMD1E: M138I
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: SCN5A: M138I
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: M138I
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation.

Circulation
Darbar, Dawood D; Kannankeril, Prince J PJ; Donahue, Brian S BS; Kucera, Gayle G; Stubblefield, Tanya T; Haines, Jonathan L JL; George, Alfred L AL; Roden, Dan M DM
Publication Date: 2008-04-15

Variant appearance in text: SCN5A: M138I
PubMed Link: 18378609
Variant Present in the following documents:
  • Main text
View BVdb publication page