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.A1773E

c.5318C>A

Surrounding Variants

11 papers

NM_001040142.2

p.A1773V

c.5318C>T

19 papers

NM_001040142.2

p.A1773T

c.5317G>A

2 papers

NM_001040142.2

p.I1772M

c.5316C>G

1 paper

NM_001040142.2

p.I1772delFs

c.5316delC

1 paper

NM_001040142.2

p.I1772fs

c.5314_5315fs

1 paper

NM_001040142.2

p.I1772L

c.5314A>C

1 paper

NM_001040142.2

p.I1775T

c.5324T>C

1 paper

NM_001040142.2

p.Y1771N

c.5311T>A

3 papers

NM_001040142.2

p.Y1771H

c.5311T>C

2 papers

NM_001040142.2

p.M1770I

c.5310G>A

2 papers

NM_001040142.2

p.M1770I

c.5310G>C

2 papers

NM_001040142.2

p.M1770I

c.5310G>T