SCN5A c.4510A>G ;(p.K1504E)

Variant ID: 3-38597176-T-C

NM_000335.4(SCN5A):c.4510A>G;(p.K1504E)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

The voltage-gated sodium channel EF-hands form an interaction with the III-IV linker that is disturbed by disease-causing mutations.

Scientific Reports
Gardill, Bernd R BR; Rivera-Acevedo, Ricardo E RE; Tung, Ching-Chieh CC; Okon, Mark M; McIntosh, Lawrence P LP; Van Petegem, Filip F
Publication Date: 2018-03-14

Variant appearance in text: LQT3: K1504E
PubMed Link: 29540853
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_22713.pdf
  • 41598_2018_22713_MOESM1_ESM.pdf
View BVdb publication page