Varaico: Literature-Extracted Genetic Variants

SCN2A

1,166 papers

RefSeq Summary

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one ...

Pfam Domains

Ion_transaa 128–436UCSCIon transport protein

Na_trans_cytoplaa 558–709UCSCCytoplasmic domain of voltage-gated Na+ ion channel

Ion_transaa 758–994UCSCIon transport protein

Na_trans_assocaa 997–1203UCSCSodium ion transport-associated

Ion_transaa 1207–1484UCSCIon transport protein

Ion_transaa 1530–1787UCSCIon transport protein

Gene Aliases

HGNC Name

sodium voltage-gated channel alpha subunit 2

HGNC Previous Symbols

SCN2A1; SCN2A2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001040142.2

p.G304delFs

c.912delT

Surrounding Variants

1 paper

NM_001040142.2

p.G304D

c.911G>A

2 papers

NM_001040142.2

p.T306A

c.916A>G

1 paper

NM_001040142.2

p.T306I

c.917C>T

1 paper

NM_001040142.2

p.F307I

c.919T>A

1 paper

NM_001040142.2

p.G302insFs

c.904dupG

1 paper

NM_001040142.2

p.D301G

c.902A>G

1 paper

NM_001040142.2

p.F307delFs

c.921delC

1 paper

NM_001040142.2

p.R309W

c.925A>T

1 paper

NM_001040142.2

p.R309K

c.926G>A

1 paper

NM_001040142.2

p.V311L

c.931G>T

2 papers

NM_001040142.2

p.N297I

c.890A>T

1 paper

NM_001040142.2

p.S312fs

c.934_935fs