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.L267S

c.800T>C

Surrounding Variants

1 paper

NM_001040142.2

p.L267V

c.799T>G

2 papers

NM_001040142.2

p.G266E

c.797G>A

3 papers

NM_001040142.2

p.G266R

c.796G>A

1 paper

NM_001040142.2

p.G266R

c.796G>C

1 paper

NM_001040142.2

p.G266*

c.796G>T

1 paper

NM_001040142.2

p.I265T

c.794T>C

2 papers

NM_001040142.2

p.L269F

c.807G>C

2 papers

NM_001040142.2

p.L269F

c.807G>T

1 paper

NM_001040142.2

p.F270C

c.809T>G

1 paper

NM_001040142.2

p.L264V

c.790C>G

2 papers

NM_001040142.2

p.L264L

c.790C>T

1 paper

NM_001040142.2

p.A263E

c.788C>A