SCN4A
From SNPedia
is a | gene |
is | mentioned by |
Full name | sodium channel, voltage-gated, type IV, alpha subunit |
Related | SCN1A, SCN2A, SCN3A, SCN5A, SCN7A, SCN8A, SCN9A, SCN10A, SCN11A |
EntrezGene | 6329 |
PheGenI | 6329 |
VariationViewer | 6329 |
ClinVar | SCN4A |
GeneCards | SCN4A |
dbSNP | 6329 |
Diseases | SCN4A |
SADR | 6329 |
HugeNav | 6329 |
wikipedia | SCN4A |
SCN4A | |
gopubmed | SCN4A |
EVS | SCN4A |
HEFalMp | SCN4A |
MyGene2 | SCN4A |
23andMe | SCN4A |
UniProt | P35499 |
Ensembl | ENSG00000007314 |
OMIM | 603967 |
# SNPs | 55 |
The SCN4A gene encodes the sodium channel, voltage-gated, type IV, alpha subunit protein (receptor). Variants in the SCN4A gene have been associated with several disorders, including:
- Hyperkalemic periodic paralysis, type 2
- Hypokalemic periodic paralysis, type 2
- Myasthenic syndrome, acetazolamide-responsive
- Myotonia congenita, atypical, acetazolamide-responsive
- Paramyotonia congenita
- Sudden Infant Death Syndrome:10.1016/S0140-6736(18)30021-7
- rs751368967, c.2045C>G (p.Ser682Trp)
- rs774452124, c.4324G>A (p.Val1442Met)
- rs774453167, c.4387C>A (p.Arg1463Ser)
- Glu1520Lys (no rsID yet)