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

2 papers

NM_001040142.2

p.S1536R

c.4606A>C

Surrounding Variants

2 papers

NM_001040142.2

p.S1536G

c.4606A>G

2 papers

NM_001040142.2

p.S1536R

c.4608C>A

2 papers

NM_001040142.2

p.S1536R

c.4608C>G

1 paper

NM_001040142.2

p.I1537F

c.4609A>T

1 paper

NM_001040142.2

p.I1537T

c.4610T>C

7 papers

NM_001040142.2

p.I1537S

c.4610T>G

2 papers

NM_001040142.2

p.I1537_M1538delins

c.4610_4614delinsGCATC

4 papers

NM_001040142.2

p.M1538I

c.4614G>A

4 papers

NM_001040142.2

p.M1538I

c.4614G>C

4 papers

NM_001040142.2

p.M1538I

c.4614G>T

1 paper

NM_001040142.2

p.V1532V

c.4596C>A

1 paper

NM_001040142.2

p.V1532A

c.4595T>C