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.R1645delFs

c.4934delC

Surrounding Variants

1 paper

NM_001165963.4

p.R1645L

c.4934G>T

2 papers

NM_001165963.4

p.R1645P

c.4934G>C

16 papers

NM_001165963.4

p.R1645Q

c.4934G>A

1 paper

NM_006920.6

p.R1634delFs

c.4900delG

24 papers

NM_001165963.4

p.R1645*

c.4933C>T

1 paper

NM_001165963.4

p.R1645G

c.4933C>G

1 paper

NM_001165963.4

p.G1644D

c.4931G>A

1 paper

NM_006920.6

p.L1636L

c.4906C>T

1 paper

NM_001165963.4

p.R1642_L1647delFs

c.4924_4939del16

2 papers

NM_006920.6

p.I1632T

c.4895T>C

36 papers

NM_001165963.4

p.R1648C

c.4942C>T

148 papers

NM_001165963.4

p.R1648H

c.4943G>A

NM_001353955.2

p.R1636H

c.4907G>A