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.G238R

c.712G>C

Surrounding Variants

1 paper

NM_001165963.4

p.G238*

c.712G>T

1 paper

NM_001165963.4

p.G238R

c.712G>A

1 paper

NM_001165963.4

p.V237L

c.709G>T

1 paper

NM_001165963.4

p.V237L

c.709G>C

11 papers

NM_001165963.4

p.A239T

c.715G>A

6 papers

NM_001165963.4

p.A239V

c.716C>T

5 papers

NM_001165963.4

p.I236T

c.707T>C

1 paper

NM_001165963.4

p.I236F

c.706A>T

4 papers

NM_001165963.4

p.I236V

c.706A>G

1 paper

NM_001165963.4

p.L240R

c.719T>G

5 papers

NM_001165963.4

p.L240P

c.719T>C

1 paper

NM_001165963.4

p.Q242*

c.724C>T