Varaico: Literature-Extracted Genetic Variants

SCN1A

1,842 papers

RefSeq Summary

Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action ...

Pfam Domains

Ion_transaa 127–434UCSCIon transport protein

Na_trans_cytoplaa 555–718UCSCCytoplasmic domain of voltage-gated Na+ ion channel

Ion_transaa 767–1003UCSCIon transport protein

Na_trans_assocaa 1006–1213UCSCSodium ion transport-associated

Ion_transaa 1217–1494UCSCIon transport protein

Ion_transaa 1540–1797UCSCIon transport protein

Gene Aliases

HGNC Name

sodium voltage-gated channel alpha subunit 1

HGNC Previous Symbol

FEB3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001165963.4

p.M251K

c.752T>A

Surrounding Variants

1 paper

NM_001165963.4

p.M251R

c.752T>G

1 paper

NM_001165963.4

p.M251delFs

c.751delT

1 paper

NM_001165963.4

p.M251I

c.753G>T

1 paper

NM_001165963.4

p.M251I

c.753G>C

1 paper

NM_001165963.4

p.M251I

c.753G>A

1 paper

NM_001165963.4

p.M251V

c.751A>G

1 paper

NM_001165963.4

p.V250insFs

c.749dupT

4 papers

NM_001165963.4

p.I252N

c.755T>A

1 paper

NM_001165963.4

p.V250L

c.748G>T

1 paper

NM_001165963.4

p.V250L

c.748G>C

4 papers

NM_001165963.4

p.V250I

c.748G>A

1 paper

NM_001165963.4

p.I252M

c.756C>G