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

9 papers

NM_001040142.2

p.A1659V

c.4976C>T

Surrounding Variants

1 paper

NM_001040142.2

p.A1659T

c.4975G>A

1 paper

NM_001040142.2

p.A1659A

c.4977G>A

2 papers

NM_001040142.2

p.L1660V

c.4978T>G

1 paper

NM_001040142.2

p.P1658H

c.4973C>A

8 papers

NM_001040142.2

p.L1660W

c.4979T>G

6 papers

NM_001040142.2

p.P1658S

c.4972C>T

1 paper

NM_001040142.2

p.F1661L

c.4981T>C

1 paper

NM_001040142.2

p.L1657H

c.4970T>A

3 papers

NM_001040142.2

p.F1661S

c.4982T>C

1 paper

NM_001040142.2

p.L1657P

c.4970T>C

1 paper

NM_001040142.2

p.L1657F

c.4969C>T

1 paper

NM_001040142.2

p.F1661L

c.4983T>A