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.V244delFs

c.731_732delCA

Surrounding Variants

1 paper

NM_001165963.4

p.K245M

c.734A>T

6 papers

NM_001165963.4

p.K245N

c.735G>T

2 papers

NM_001165963.4

p.K245N

c.735G>C

10 papers

NM_001165963.4

p.V244L

c.730G>T

7 papers

NM_001165963.4

p.V244L

c.730G>C

1 paper

NM_001165963.4

p.V244M

c.730G>A

9 papers

NM_001165963.4

p.K246*

c.736A>T

5 papers

NM_001165963.4

p.S243F

c.728C>T

2 papers

NM_001165963.4

p.S243Y

c.728C>A

1 paper

NM_001165963.4

p.L247F

c.739C>T

4 papers

NM_001165963.4

p.L247V

c.739C>G

3 papers

NM_001165963.4

p.K246del1

c.736_737delCTT