SCN5A c.479T>C ;(p.V160A)

Variant ID: 3-38663894-A-G

NM_000335.4(SCN5A):c.479T>C;(p.V160A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research
Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL
Publication Date: 2022-05

Variant appearance in text: SCN5A: 479T>C
PubMed Link: 35229492
Variant Present in the following documents:
  • PCMR-35-369-s003.xlsx, sheet 6
View BVdb publication page



Identification of Amino Acid Residues in Fibroblast Growth Factor 14 (FGF14) Required for Structure-Function Interactions with Voltage-gated Sodium Channel Nav1.6.

The Journal Of Biological Chemistry
Ali, Syed R SR; Singh, Aditya K AK; Laezza, Fernanda F
Publication Date: 2016-05-20

Variant appearance in text: Nav1.5: V160A
PubMed Link: 26994141
Variant Present in the following documents:
  • Main text
View BVdb publication page