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.L93*

c.278T>A

Surrounding Variants

2 papers

NM_001165963.4

p.L93insFs

c.278_279insA

4 papers

NM_001165963.4

p.L93S

c.278T>C

1 paper

NM_001165963.4

p.V92_L93delFs

c.274_277del4

1 paper

NM_001165963.4

p.L93delFs

c.277delA

1 paper

NM_001165963.4

p.L93delFs

c.277_278delAA

2 papers

NM_001165963.4

p.L93delFs

c.279delC

1 paper

NM_001165963.4

p.N94K

c.282T>G

1 paper

NM_001165963.4

p.N94K

c.282T>A

1 paper

NM_001165963.4

p.V92L

c.274G>T

1 paper

NM_001165963.4

p.V92L

c.274G>C

1 paper

NM_001165963.4

p.I91delFs

c.272_273delTA

2 papers

NM_001165963.4

p.K95insFs

c.283_284insGT