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.L1423F

c.4267C>T

Surrounding Variants

1 paper

NM_001165963.4

p.Y1422*

c.4266T>G

1 paper

NM_001165963.4

p.Y1422*

c.4266T>A

7 papers

NM_001165963.4

p.Y1422C

c.4265A>G

1 paper

NM_001165963.4

p.S1424P

c.4270T>C

2 papers

NM_001165963.4

p.G1421fs

c.4261_4262fs

1 paper

NM_001165963.4

p.S1424F

c.4271C>T

1 paper

NM_001165963.4

p.G1421E

c.4262G>A

7 papers

NM_001165963.4

p.G1421W

c.4261G>T

NM_006920.6

p.G1410W

c.4228G>T

2 papers

NM_001165963.4

p.G1421R

c.4261G>C

2 papers

NM_001165963.4

p.G1421R

c.4261G>A

1 paper

NM_001165963.4

p.L1425*

c.4274T>A

1 paper

NM_001165963.4

p.G1421_L1425delFs

c.4262_4275del14