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

2 papers

NM_006920.6

p.N1733D

c.5197A>G

NM_001165963.4

p.N1744D

c.5230A>G

Surrounding Variants

1 paper

NM_001165964.3

p.D1714V

c.5141A>T

6 papers

NM_001165963.4

p.D1742G

c.5225A>G

1 paper

NM_001165963.4

p.V1746F

c.5236G>T

7 papers

NM_001165963.4

p.C1741S

c.5222G>C

2 papers

NM_001165963.4

p.C1741Y

c.5222G>A

2 papers

NM_001165963.4

p.C1741R

c.5221T>C

7 papers

NM_001165963.4

p.C1741S

c.5221T>A

4 papers

NM_001165963.4

p.N1747insFs

c.5240_5241insAA

1 paper

NM_001165963.4

p.D1740Y

c.5218G>T

2 papers

NM_001165963.4

p.D1740N

c.5218G>A

1 paper

NM_001165963.4

p.P1748R

c.5243C>G

1 paper

NM_001165963.4

p.P1739L

c.5216C>T