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.V887I

c.2659G>A

Surrounding Variants

2 papers

NM_001040142.2

p.V887L

c.2659G>C

4 papers

NM_001040142.2

p.V887A

c.2660T>C

5 papers

NM_001040142.2

p.L886S

c.2657T>C

2 papers

NM_001040142.2

p.T885I

c.2654C>T

1 paper

NM_001040142.2

p.A889T

c.2665G>A

3 papers

NM_001040142.2

p.L884H

c.2651T>A

2 papers

NM_001040142.2

p.L884F

c.2650C>T

1 paper

NM_001040142.2

p.I890T

c.2669T>C

2 papers

NM_001040142.2

p.I890M

c.2670C>G

1 paper

NM_001040142.2

p.N883H

c.2647A>C

2 papers

NM_001040142.2

p.I891T

c.2672T>C

8 papers

NM_001040142.2

p.G882E

c.2645G>A