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

6 papers

NM_001165963.4

p.T1722A

c.5164A>G

Surrounding Variants

1 paper

NM_001165963.4

p.T1721I

c.5162C>T

4 papers

NM_001165963.4

p.T1721R

c.5162C>G

1 paper

NM_001165963.4

p.T1721K

c.5162C>A

2 papers

NM_001165963.4

p.S1723F

c.5168C>T

1 paper

NM_001165963.4

p.I1720N

c.5159T>A

1 paper

NM_001165963.4

p.A1724P

c.5170G>C

5 papers

NM_001165963.4

p.A1724T

c.5170G>A

1 paper

NM_001165963.4

p.A1724V

c.5171C>T

2 papers

NM_006920.6

p.A1713D

c.5138C>A

NM_001165963.4

p.A1724D

c.5171C>A

1 paper

NM_001165963.4

p.Q1719P

c.5156A>C

4 papers

NM_001165963.4

p.G1725C

c.5173G>T

1 paper

NM_001165963.4

p.G1725R

c.5173G>C