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.P1984L

c.5951C>T

Surrounding Variants

1 paper

NM_006920.6

p.Y1975D

c.5923T>G

4 papers

NM_001165963.4

p.R1988W

c.5962C>T

1 paper

NM_001165963.4

p.R1988Q

c.5963G>A

1 paper

NM_006920.6

p.A1969S

c.5905G>T

3 papers

NM_001165963.4

p.M1977L

c.5929A>T

1 paper

NM_001165963.4

p.M1977V

c.5929A>G

3 papers

NM_001165963.4

p.M1977L

c.5929A>C

1 paper

NM_001165963.4

p.I1993V

c.5977A>G

1 paper

NM_001165963.4

p.R1963T

c.5888G>C

1 paper

NM_001165963.4

p.D1958G

c.5873A>G

5 papers

NM_001165963.4

p.E1957G

c.5870A>G

4 papers

NM_001165963.4

p.I1955T

c.5864T>C