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.W1408R

c.4222T>C

Surrounding Variants

1 paper

NM_001165963.4

p.W1408R

c.4222T>A

14 papers

NM_001165963.4

p.W1408*

c.4223G>A

1 paper

NM_001165963.4

p.W1408C

c.4224G>T

1 paper

NM_001165963.4

p.W1408C

c.4224G>C

12 papers

NM_001165963.4

p.W1408*

c.4224G>A

1 paper

NM_001165963.4

p.R1407Q

c.4220G>A

86 papers

NM_001165963.4

p.R1407*

c.4219C>T

1 paper

NM_001165963.4

p.W1408delFs

c.4224delC

1 paper

NM_001165963.4

p.K1409R

c.4226A>G

1 paper

NM_001165963.4

p.K1409N

c.4227A>C

5 papers

NM_001165963.4

p.A1406T

c.4216G>A

1 paper

NM_001165963.4

p.N1410insFs

c.4229dupA