SCN5A c.1117T>A ;(p.C373S)

Variant ID: 3-38648183-A-T

NM_000335.4(SCN5A):c.1117T>A;(p.C373S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The human Nav1.5 F1486 deletion associated with long QT syndrome leads to impaired sodium channel inactivation and reduced lidocaine sensitivity.

The Journal Of Physiology
Song, Weihua W; Xiao, Yucheng Y; Chen, Hanying H; Ashpole, Nicole M NM; Piekarz, Andrew D AD; Ma, Peilin P; Hudmon, Andy A; Cummins, Theodore R TR; Shou, Weinian W
Publication Date: 2012-10-15

Variant appearance in text: Nav1.5: C373S
PubMed Link: 22826127
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ca2+/calmodulin-dependent protein kinase II (CaMKII) regulates cardiac sodium channel NaV1.5 gating by multiple phosphorylation sites.

The Journal Of Biological Chemistry
Ashpole, Nicole M NM; Herren, Anthony W AW; Ginsburg, Kenneth S KS; Brogan, Joseph D JD; Johnson, Derrick E DE; Cummins, Theodore R TR; Bers, Donald M DM; Hudmon, Andy A
Publication Date: 2012-06-08

Variant appearance in text: Nav1.5: C373S
PubMed Link: 22514276
Variant Present in the following documents:
  • Main text
View BVdb publication page