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

2 papers

NM_001165963.4

p.L897S

c.2690T>C

Surrounding Variants

2 papers

NM_001165963.4

p.V896F

c.2686G>T

4 papers

NM_001165963.4

p.V896L

c.2686G>C

2 papers

NM_001165963.4

p.V896I

c.2686G>A

1 paper

NM_001165963.4

p.I899L

c.2695A>C

2 papers

NM_001165963.4

p.I899T

c.2696T>C

1 paper

NM_001165963.4

p.L895F

c.2683C>T

1 paper

NM_001165963.4

p.L893_T894del2

c.2677_2681del6

2 papers

NM_001165963.4

p.T894S

c.2681C>G

1 paper

NM_001165963.4

p.T894N

c.2681C>A

2 papers

NM_001165963.4

p.T894S

c.2680A>T

1 paper

NM_001165963.4

p.V901I

c.2701G>A

4 papers

NM_001165963.4

p.L893F

c.2679A>T