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

3 papers

NM_001165963.4

p.L1624Q

c.4871T>A

Surrounding Variants

1 paper

NM_001165963.4

p.L1624R

c.4871T>G

10 papers

NM_001165963.4

p.L1624P

c.4871T>C

2 papers

NM_001165963.4

p.E1623D

c.4869G>T

2 papers

NM_001165963.4

p.E1623D

c.4869G>C

1 paper

NM_001165963.4

p.E1623V

c.4868A>T

1 paper

NM_001165963.4

p.E1623G

c.4868A>G

2 papers

NM_001165963.4

p.E1623A

c.4868A>C

2 papers

NM_001165963.4

p.E1623Q

c.4867G>C

3 papers

NM_006920.6

p.E1612K

c.4834G>A

NM_001165963.4

p.E1623K

c.4867G>A

1 paper

NM_001165963.4

p.A1622A

c.4866C>A

2 papers

NM_001165963.4

p.A1622D

c.4865C>A

1 paper

NM_001165963.4

p.L1621F

c.4861C>T