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

6 papers

NM_001165963.4

p.G1618Splc

c.4853-1G>C

Surrounding Variants

4 papers

NM_001165963.4

p.G1618S

c.4852G>A

2 papers

NM_001165963.4

p.G1618fs

c.4852_4853fs

2 papers

NM_001165963.4

p.G1618Splc

c.4853-2A>T

2 papers

NM_001165963.4

p.G1618Splc

c.4853-2A>C

1 paper

NM_001165963.4

p.M1619fs

c.4855_4856fs

7 papers

NM_001165963.4

p.M1619V

c.4855A>G

1 paper

NM_001165963.4

p.M1619I

c.4857G>T

1 paper

NM_001165963.4

p.M1619I

c.4857G>C

1 paper

NM_001165963.4

p.M1619I

c.4857G>A

1 paper

NM_001165963.4

p.L1621F

c.4861C>T

2 papers

NM_001165963.4

p.G1618Splc

c.4853-14T>G

2 papers

NM_001165963.4

p.A1622D

c.4865C>A