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.L1649L

c.4945C>T

Surrounding Variants

56 papers

NM_001165963.4

p.L1649Q

c.4946T>A

NM_006920.6

p.L1638Q

c.4913T>A

148 papers

NM_001165963.4

p.R1648H

c.4943G>A

NM_001353955.2

p.R1636H

c.4907G>A

36 papers

NM_001165963.4

p.R1648C

c.4942C>T

1 paper

NM_001165963.4

p.R1642_L1647delFs

c.4924_4939del16

3 papers

NM_001165963.4

p.I1650insFs

c.4949_4950insT

1 paper

NM_001165963.4

p.I1650fs

c.4948_4949fs

1 paper

NM_006920.6

p.L1636L

c.4906C>T

1 paper

NM_001165963.4

p.K1651fs

c.4951_4952fs

1 paper

NM_001165963.4

p.G1652*

c.4954G>T

1 paper

NM_001165963.4

p.R1645delFs

c.4934delC

1 paper

NM_001165963.4

p.R1645L

c.4934G>T

2 papers

NM_001165963.4

p.R1645P

c.4934G>C