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_006920.6

p.F1797S

c.5390T>C

NM_001165963.4

p.F1808S

c.5423T>C

Surrounding Variants

2 papers

NM_001165963.4

p.F1808V

c.5422T>G

18 papers

NM_001165963.4

p.F1808L

c.5422T>C

2 papers

NM_001165963.4

p.F1808I

c.5422T>A

18 papers

NM_001165963.4

p.F1808L

c.5424C>G

18 papers

NM_001165963.4

p.F1808L

c.5424C>A

1 paper

NM_001353958.2

p.Y1781N

c.5341T>A

1 paper

NM_001165963.4

p.Y1809*

c.5427T>G

1 paper

NM_001165963.4

p.Y1809*

c.5427T>A

2 papers

NM_006920.6

p.E1795E

c.5385G>A

NM_001165963.4

p.E1806E

c.5418G>A

1 paper

NM_001353960.2

p.E1777delFs

c.5329delC

1 paper

NM_006920.6

p.E1795*

c.5383G>T

1 paper

NM_001165963.4

p.E1806K

c.5416G>A