SCN5A c.4480_4481delinsGC ;(p.Y1494A)

Variant ID: 3-38597205-TA-GC

NM_000335.4(SCN5A):c.4480_4481delinsGC;(p.Y1494A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Predicting changes to INa from missense mutations in human SCN5A.

Scientific Reports
Clerx, Michael M; Heijman, Jordi J; Collins, Pieter P; Volders, Paul G A PGA
Publication Date: 2018-08-24

Variant appearance in text: SCN5A: Y1494A
PubMed Link: 30143662
Variant Present in the following documents:
  • 41598_2018_30577_MOESM1_ESM.pdf
View BVdb publication page



A Mechanism of Calmodulin Modulation of the Human Cardiac Sodium Channel.

Structure (London, England : 1993)
Johnson, Christopher N CN; Potet, Franck F; Thompson, Matthew K MK; Kroncke, Brett M BM; Glazer, Andrew M AM; Voehler, Markus W MW; Knollmann, Bjorn C BC; George, Alfred L AL; Chazin, Walter J WJ
Publication Date: 2018-05-01

Variant appearance in text: Nav1.5: Y1494A
PubMed Link: 29606593
Variant Present in the following documents:
  • Main text
View BVdb publication page