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.N53S

c.158A>G

Surrounding Variants

1 paper

NM_001040142.2

p.N53I

c.158A>T

1 paper

NM_001040142.2

p.S54_D55del1

c.161_163delGTG

1 paper

NM_001040142.2

p.P52delFs

c.155_156delCA

1 paper

NM_001040142.2

p.D55V

c.164A>T

1 paper

NM_001040142.2

p.K51E

c.151A>G

1 paper

NM_001040142.2

p.K51_S61del0

c.151_183del33

1 paper

NM_001040142.2

p.L56_E57delins

c.168_171delinsA

1 paper

NM_001040142.2

p.L56L

c.168G>A

1 paper

NM_001040142.2

p.E57K

c.169G>A

1 paper

NM_001040142.2

p.E57ins1

c.170_171insGCA

1 paper

NM_001040142.2

p.G49insFs

c.146_147insT

1 paper

NM_001040142.2

p.N48S

c.143A>G