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.F1765S

c.5294T>C

Surrounding Variants

7 papers

NM_001165963.4

p.F1765L

c.5295T>G

7 papers

NM_001165963.4

p.F1765L

c.5293T>C

7 papers

NM_001165963.4

p.F1765L

c.5295T>A

1 paper

NM_001165963.4

p.F1765I

c.5293T>A

1 paper

NM_001165963.4

p.F1764insFs

c.5291_5292insT

1 paper

NM_001165963.4

p.F1766delFs

c.5297_5298delAA

2 papers

NM_001165963.4

p.F1766del1

c.5296_5297delAAA

1 paper

NM_001165963.4

p.F1765_F1766delFs

c.5295_5298del4

3 papers

NM_001165963.4

p.I1763N

c.5288T>A

2 papers

NM_001165963.4

p.S1768R

c.5302A>C

1 paper

NM_001165963.4

p.G1762G

c.5286A>C

6 papers

NM_001165963.4

p.G1762E

c.5285G>A