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

3 papers

NM_001165963.4

p.G1371D

c.4112G>A

Surrounding Variants

4 papers

NM_001165963.4

p.G1371V

c.4112G>T

2 papers

NM_001165963.4

p.G1371A

c.4112G>C

1 paper

NM_001165963.4

p.G1371delFs

c.4112delC

7 papers

NM_001165963.4

p.K1372E

c.4114A>G

2 papers

NM_001165963.4

p.A1370V

c.4109C>T

1 paper

NM_001165963.4

p.F1373L

c.4117T>C

1 paper

NM_001165963.4

p.F1373C

c.4118T>G

1 paper

NM_001165963.4

p.F1373S

c.4118T>C

1 paper

NM_001165963.4

p.F1369L

c.4105T>C

1 paper

NM_001165963.4

p.F1369I

c.4105T>A

1 paper

NM_001165963.4

p.F1373L

c.4119C>G

1 paper

NM_001165963.4

p.F1373L

c.4119C>A