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.A98P

c.292G>C

Surrounding Variants

1 paper

NM_001165963.4

p.K97_A98delFs

c.289_292del4

1 paper

NM_001165963.4

p.K97E

c.289A>G

1 paper

NM_001165963.4

p.I99S

c.296T>G

1 paper

NM_001165963.4

p.K95_G96insFs

c.283_286dup4

1 paper

NM_001165963.4

p.G96A

c.287G>C

2 papers

NM_001165963.4

p.F100V

c.298T>G

1 paper

NM_001165963.4

p.F100I

c.298T>A

1 paper

NM_001165963.4

p.G96fs

c.286_287fs

25 papers

NM_001165963.4

p.R101W

c.301C>T

2 papers

NM_001165963.4

p.R101G

c.301C>G

2 papers

NM_001165963.4

p.K95insFs

c.283_284insGT

1 paper

NM_001165963.4

p.N94K

c.282T>G