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.E307K

c.919G>A

Surrounding Variants

1 paper

NM_001165963.4

p.E307*

c.919G>T

1 paper

NM_001165963.4

p.N306T

c.917A>C

1 paper

NM_001165963.4

p.N306Y

c.916A>T

1 paper

NM_001165963.4

p.N306D

c.916A>G

1 paper

NM_001165963.4

p.I305L

c.913A>T

1 paper

NM_001165963.4

p.T303T

c.909A>G

4 papers

NM_001165963.4

p.E311*

c.931G>T

1 paper

NM_001165963.4

p.E311K

c.931G>A

1 paper

NM_001165963.4

p.N299_G302delFs

c.896_905del10

1 paper

NM_001165963.4

p.F310_E311insFs

c.930_931insTG

1 paper

NM_001165963.4

p.F312S

c.935T>C

1 paper

NM_001165963.4

p.N301delFs

c.902delT