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.D1843V

c.5528A>T

Surrounding Variants

1 paper

NM_001040142.2

p.M1842I

c.5526G>A

1 paper

NM_001040142.2

p.M1842I

c.5526G>C

1 paper

NM_001040142.2

p.M1842I

c.5526G>T

1 paper

NM_001040142.2

p.A1841G

c.5522C>G

1 paper

NM_001040142.2

p.M1846I

c.5538G>A

1 paper

NM_001040142.2

p.M1846I

c.5538G>C

1 paper

NM_001040142.2

p.M1846I

c.5538G>T

1 paper

NM_001040142.2

p.Q1838P

c.5513A>C

1 paper

NM_001040142.2

p.Q1838*

c.5512C>T

1 paper

NM_001040142.2

p.D1850N

c.5548G>A

1 paper

NM_001040142.2

p.D1850G

c.5549A>G

1 paper

NM_001040142.2

p.R1851W

c.5551C>T