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

3 papers

NM_001040142.2

p.R36*

c.106A>T

Surrounding Variants

4 papers

NM_001040142.2

p.R36G

c.106A>G

1 paper

NM_001040142.2

p.R36K

c.107G>A

1 paper

NM_001040142.2

p.K35N

c.105G>T

1 paper

NM_001040142.2

p.A34_K35insFs

c.102_103insG

1 paper

NM_001040142.2

p.P37P

c.111C>A

2 papers

NM_001040142.2

p.K38Q

c.112A>C

2 papers

NM_001040142.2

p.A34T

c.100G>A

1 paper

NM_001040142.2

p.A34delFs

c.101_102delCT

1 paper

NM_001040142.2

p.A34_E40delFs

c.100_118del19

1 paper

NM_001040142.2

p.A34_K35delFs

c.100_103del4

1 paper

NM_001040142.2

p.Q39E

c.115C>G

1 paper

NM_001040142.2

p.E32E

c.96G>A