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SCN5A c.2141T>C ;(p.V714A)
Variant ID: 3-38639341-A-G
NM_000335.4(
SCN5A
):c.2141T>C;(p.V714A)
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:
Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function - Implications for Potential Therapies.
Frontiers In Synaptic Neuroscience
Striessnig, Jörg J
Publication Date: 2021
Variant appearance in text: Nav1.5: V714A
PubMed Link:
33746731
Variant Present in the following documents:
Main text
fnsyn-13-634760.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: LQT3: V714A
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page