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

1 paper

NM_001165963.4

p.A1653E

c.4958C>A

Surrounding Variants

1 paper

NM_001165963.4

p.G1652*

c.4954G>T

1 paper

NM_001165963.4

p.G1655V

c.4964G>T

1 paper

NM_001165963.4

p.G1655A

c.4964G>C

1 paper

NM_001165963.4

p.K1651fs

c.4951_4952fs

3 papers

NM_001165963.4

p.I1650insFs

c.4949_4950insT

1 paper

NM_001165963.4

p.I1650fs

c.4948_4949fs

1 paper

NM_001165963.4

p.I1656fs

c.4966_4967fs

2 papers

NM_001165963.4

p.I1656V

c.4966A>G

1 paper

NM_001165963.4

p.G1655delFs

c.4965delC

2 papers

NM_001165964.3

p.I1628S

c.4883T>G

NM_001165963.4

p.I1656S

c.4967T>G

26 papers

NM_001165963.4

p.I1656M

c.4968C>G

22 papers

NM_001165963.4

p.R1657C

c.4969C>T