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.Y159delFs

c.476delT

Surrounding Variants

1 paper

NM_001165963.4

p.Y159H

c.475T>C

3 papers

NM_001165963.4

p.T160N

c.479C>A

1 paper

NM_001165963.4

p.Y159fs

c.475_476fs

1 paper

NM_001165963.4

p.T160insFs

c.479dupC

3 papers

NM_001165963.4

p.F161L

c.481T>C

1 paper

NM_001165963.4

p.E158Splc

c.474-1G>C

2 papers

NM_001165963.4

p.E158Splc

c.474-1G>A

1 paper

NM_001165963.4

p.E158V

c.473A>T

3 papers

NM_001165963.4

p.E158G

c.473A>G

1 paper

NM_001165963.4

p.E158A

c.473A>C

4 papers

NM_001165963.4

p.E158Q

c.472G>C

1 paper

NM_001165963.4

p.E158Splc

c.474-2A>C