GC c.52_53delinsTG ;(p.E18W)

Variant ID: 4-72649683-TC-CA

NM_000583.3(GC):c.52_53delinsTG;(p.E18W)

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:

Rbfox proteins regulate alternative splicing of neuronal sodium channel SCN8A.

Molecular And Cellular Neurosciences
O'Brien, Janelle E JE; Drews, Valerie L VL; Jones, Julie M JM; Dugas, Jason C JC; Barres, Ben A BA; Meisler, Miriam H MH
Publication Date: 2012-02

Variant appearance in text: GC: E18w
PubMed Link: 22044765
Variant Present in the following documents:
  • Main text
View BVdb publication page