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.K235delFs

c.705delG

Surrounding Variants

1 paper

NM_001040142.2

p.T236A

c.706A>G

11 papers

NM_001040142.2

p.T236S

c.706A>T

11 papers

NM_001040142.2

p.T236S

c.707C>G

2 papers

NM_001040142.2

p.L234L

c.700C>T

1 paper

NM_001040142.2

p.T236_I237Fs

c.708_709delinsTFs

1 paper

NM_001040142.2

p.G233V

c.698G>T

3 papers

NM_001040142.2

p.I237N

c.710T>A

1 paper

NM_001040142.2

p.G233Splc

c.698-1G>T

1 paper

NM_001040142.2

p.V238L

c.712G>T

1 paper

NM_001040142.2

p.A240T

c.718G>A

2 papers

NM_001040142.2

p.A240P

c.718G>C

5 papers

NM_001040142.2

p.A240S

c.718G>T