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

17 papers

NM_001165963.4

p.R1928G

c.5782C>G

NM_006920.6

p.R1917G

c.5749C>G

Surrounding Variants

1 paper

NM_001165963.4

p.R1928C

c.5782C>T

1 paper

NM_001165963.4

p.R1927_R1928delins

c.5781_5782delinsTG

1 paper

NM_001165963.4

p.R1928L

c.5783G>T

1 paper

NM_001165963.4

p.R1928H

c.5783G>A

2 papers

NM_001165963.4

p.R1927T

c.5780G>C

1 paper

NM_001165963.4

p.H1929Y

c.5785C>T

10 papers

NM_001165963.4

p.R1927G

c.5779A>G

NM_006920.6

p.R1916G

c.5746A>G

1 paper

NM_001165963.4

p.Y1926*

c.5778C>G

1 paper

NM_001165963.4

p.Y1926*

c.5778C>A

3 papers

NM_001165963.4

p.Y1926C

c.5777A>G

NM_006920.6

p.Y1915C

c.5744A>G

1 paper

NM_001165963.4

p.Y1926delFs

c.5776delA

1 paper

NM_006920.6

p.A1914del1

c.5740_5742delAGC