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.L1650I

c.4948C>A

Surrounding Variants

10 papers

NM_001040142.2

p.L1650P

c.4949T>C

2 papers

NM_001040142.2

p.L1649Q

c.4946T>A

2 papers

NM_001040142.2

p.F1651V

c.4951T>G

6 papers

NM_001040142.2

p.F1651C

c.4952T>G

1 paper

NM_001040142.2

p.T1648M

c.4943C>T

3 papers

NM_001040142.2

p.A1652P

c.4954G>C

1 paper

NM_001040142.2

p.L1653delFs

c.4958delT

1 paper

NM_001040142.2

p.R1647H

c.4940G>A

1 paper

NM_001040142.2

p.L1653V

c.4957T>G

1 paper

NM_001040142.2

p.I1646_R1647ins1

c.4938_4939insGAT

1 paper

NM_001040142.2

p.L1653*

c.4958T>A

2 papers

NM_001040142.2

p.L1653F

c.4959G>C