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.F1463L

c.4389T>A

Surrounding Variants

1 paper

NM_001165963.4

p.F1463L

c.4389T>G

8 papers

NM_001165963.4

p.F1463S

c.4388T>C

4 papers

NM_006920.6

p.Y1451_F1452delFs

c.4352_4356del5

NM_001165963.4

p.Y1462_F1463delFs

c.4385_4389del5

2 papers

NM_001165963.4

p.V1464A

c.4391T>C

1 paper

NM_001165963.4

p.F1463L

c.4387T>C

1 paper

NM_006920.6

p.Y1451_V1453del0

c.4352_4357del6

1 paper

NM_006920.6

p.Y1451fs

c.4351_4352fs

5 papers

NM_001165963.4

p.Y1462C

c.4385A>G

2 papers

NM_001165963.4

p.I1465V

c.4393A>G

1 paper

NM_001165963.4

p.Y1462insFs

c.4384dupT

6 papers

NM_001165963.4

p.Y1462H

c.4384T>C

3 papers

NM_001165963.4

p.Y1462fs

c.4384_4385fs

NM_006920.6

p.Y1451fs

c.4351_4352fs