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.Y1684F

c.5051A>T

Surrounding Variants

1 paper

NM_001040142.2

p.V1685F

c.5053G>T

3 papers

NM_001040142.2

p.F1682S

c.5045T>C

1 paper

NM_001040142.2

p.R1687G

c.5059A>G

1 paper

NM_001040142.2

p.Y1674_F1677del4

c.5020_5030del12

1 paper

NM_001040142.2

p.I1673T

c.5018T>C

1 paper

NM_001040142.2

p.N1696N

c.5088C>T

1 paper

NM_001040142.2

p.M1671L

c.5011A>C

1 paper

NM_001040142.2

p.M1671V

c.5011A>G

1 paper

NM_001040142.2

p.M1671L

c.5011A>T

1 paper

NM_001040142.2

p.G1701S

c.5101G>A

2 papers

NM_001040142.2

p.L1666F

c.4996C>T

1 paper

NM_001040142.2

p.L1667del1

c.4999_5000delCTT