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.C258S

c.773G>C

Surrounding Variants

2 papers

NM_001040142.2

p.C258S

c.772T>A

1 paper

NM_001040142.2

p.L259I

c.775C>A

1 paper

NM_001040142.2

p.L259P

c.776T>C

1 paper

NM_001040142.2

p.L259delFs

c.777delA

1 paper

NM_001040142.2

p.S260G

c.778A>G

1 paper

NM_001040142.2

p.S260C

c.778A>T

27 papers

NM_001040142.2

p.V261M

c.781G>A

3 papers

NM_001040142.2

p.V261L

c.781G>C

3 papers

NM_001040142.2

p.V261L

c.781G>T

1 paper

NM_001040142.2

p.T255I

c.764C>T

2 papers

NM_001040142.2

p.V261G

c.782T>G

1 paper

NM_001040142.2

p.V261delFs

c.783delG