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

4 papers

NM_001165963.4

p.W1726*

c.5178G>A

Surrounding Variants

2 papers

NM_001165963.4

p.D1727Y

c.5179G>T

4 papers

NM_001165963.4

p.W1726*

c.5177G>A

5 papers

NM_001165963.4

p.W1726R

c.5176T>C

5 papers

NM_001165963.4

p.W1726R

c.5176T>A

2 papers

NM_001165963.4

p.D1727G

c.5180A>G

1 paper

NM_001165963.4

p.G1725V

c.5174G>T

4 papers

NM_001165963.4

p.G1725C

c.5173G>T

1 paper

NM_001165963.4

p.G1728A

c.5183G>C

1 paper

NM_001165963.4

p.G1725R

c.5173G>C

1 paper

NM_001165963.4

p.G1728E

c.5183G>A

1 paper

NM_001165963.4

p.A1724V

c.5171C>T

2 papers

NM_006920.6

p.A1713D

c.5138C>A

NM_001165963.4

p.A1724D

c.5171C>A