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SCN5A c.1031C>T ;(p.A344V)
Variant ID: 3-38648269-G-A
NM_000335.4(
SCN5A
):c.1031C>T;(p.A344V)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Frontiers In Pharmacology
Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR
Publication Date: 2020
Variant appearance in text: SCN5A: A344V
PubMed Link:
32431610
Variant Present in the following documents:
Main text
fphar-11-00550.pdf
Table_1.xlsx, sheet 1
View BVdb publication page
Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.
Npj Genomic Medicine
Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R
Publication Date: 2017
Variant appearance in text: SCN5A: A344V
PubMed Link:
29263839
Variant Present in the following documents:
41525_2017_32_MOESM8_ESM.xlsx, sheet 6
View BVdb publication page