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

5 papers

NM_001165963.4

p.V1857L

c.5569G>C

Surrounding Variants

5 papers

NM_001165963.4

p.V1857L

c.5569G>T

2 papers

NM_001165963.4

p.M1856T

c.5567T>C

2 papers

NM_001165963.4

p.V1857insFs

c.5570dupT

1 paper

NM_001165963.4

p.S1858G

c.5572A>G

3 papers

NM_001165963.4

p.P1855L

c.5564C>T

1 paper

NM_001165963.4

p.P1855H

c.5564C>A

1 paper

NM_001165963.4

p.S1858_G1859insFs

c.5574_5575insT

3 papers

NM_001165963.4

p.P1855S

c.5563C>T

1 paper

NM_001165963.4

p.D1860delFs

c.5579delT

7 papers

NM_001165963.4

p.R1861W

c.5581C>T

2 papers

NM_001165963.4

p.I1850_A1851del2

c.5548_5552del6

1 paper

NM_001165963.4

p.G1859_R1861delins

c.5575_5582delinsAA