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

39 papers

NM_001165963.4

p.R101Q

c.302G>A

Surrounding Variants

1 paper

NM_001165963.4

p.R101L

c.302G>T

25 papers

NM_001165963.4

p.R101W

c.301C>T

2 papers

NM_001165963.4

p.R101G

c.301C>G

1 paper

NM_001165963.4

p.F102V

c.304T>G

1 paper

NM_001165963.4

p.F102L

c.304T>C

1 paper

NM_001165963.4

p.F102I

c.304T>A

1 paper

NM_001165963.4

p.F102S

c.305T>C

2 papers

NM_001165963.4

p.F100V

c.298T>G

1 paper

NM_001165963.4

p.F100I

c.298T>A

1 paper

NM_001165963.4

p.F102L

c.306C>G

1 paper

NM_001165963.4

p.F102L

c.306C>A

1 paper

NM_001165963.4

p.F102delFs

c.305delA