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.L1630I

c.4888C>A

Surrounding Variants

2 papers

NM_001040142.2

p.L1630P

c.4889T>C

18 papers

NM_001040142.2

p.R1629H

c.4886G>A

1 paper

NM_001040142.2

p.R1629P

c.4886G>C

10 papers

NM_001040142.2

p.R1629L

c.4886G>T

2 papers

NM_001040142.2

p.R1629C

c.4885C>T

1 paper

NM_001040142.2

p.A1631T

c.4891G>A

3 papers

NM_001040142.2

p.R1632K

c.4895G>A

2 papers

NM_001040142.2

p.R1632_I1633insFs

c.4896_4897insT

1 paper

NM_001040142.2

p.I1633fs

c.4897_4898fs

1 paper

NM_001040142.2

p.I1633fs

c.4897_4898fs

5 papers

NM_001040142.2

p.V1627M

c.4879G>A

15 papers

NM_001040142.2

p.R1626Q

c.4877G>A