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_001165964.3

p.S1722G

c.5164A>G

Surrounding Variants

16 papers

NM_001165963.4

p.G1749E

c.5246G>A

2 papers

NM_001165963.4

p.S1750_S1751insFs

c.5250_5251insGG

1 paper

NM_001165963.4

p.P1748insFs

c.5244dupT

1 paper

NM_001165963.4

p.G1749R

c.5245G>C

1 paper

NM_001165963.4

p.G1749R

c.5245G>A

1 paper

NM_001165963.4

p.G1749fs

c.5245_5246fs

1 paper

NM_001165963.4

p.S1750_S1751Fs

c.5250_5252delinsGGFs

1 paper

NM_001165963.4

p.P1748R

c.5243C>G

1 paper

NM_001165963.4

p.S1750_S1751del1

c.5250_5252delGAG

4 papers

NM_001165963.4

p.N1747insFs

c.5240_5241insAA

1 paper

NM_001165963.4

p.V1746F

c.5236G>T

7 papers

NM_001165963.4

p.G1754R

c.5260G>C