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_006920.6

p.N1747fs

c.5239_5240fs

Surrounding Variants

3 papers

NM_001165963.4

p.G1757E

c.5270G>A

1 paper

NM_006920.6

p.G1746W

c.5236G>T

5 papers

NM_001165963.4

p.G1757R

c.5269G>C

5 papers

NM_001165963.4

p.G1757R

c.5269G>A

1 paper

NM_001165963.4

p.P1759Q

c.5276C>A

3 papers

NM_001165963.4

p.C1756G

c.5266T>G

2 papers

NM_001165963.4

p.C1756R

c.5266T>C

1 paper

NM_001165963.4

p.P1759delFs

c.5277delT

3 papers

NM_001165963.4

p.D1755G

c.5264A>G

1 paper

NM_001165963.4

p.V1761A

c.5282T>C

7 papers

NM_001165963.4

p.G1754R

c.5260G>C

8 papers

NM_001165963.4

p.G1754R

c.5260G>A

NM_006920.6

p.G1743R

c.5227G>A