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.




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