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.S1763A

c.5287T>G

Surrounding Variants

1 paper

NM_001040142.2

p.S1763T

c.5287T>A

1 paper

NM_001040142.2

p.S1763F

c.5288C>T

1 paper

NM_001040142.2

p.I1761I

c.5283C>T

1 paper

NM_001040142.2

p.F1764C

c.5291T>G

1 paper

NM_001040142.2

p.F1764_L1765insFs

c.5292_5293insT

4 papers

NM_001040142.2

p.L1765P

c.5294T>C

1 paper

NM_001040142.2

p.I1760T

c.5279T>C

7 papers

NM_001040142.2

p.S1758R

c.5274T>A

1 paper

NM_001040142.2

p.V1767A

c.5300T>C

7 papers

NM_001040142.2

p.S1758R

c.5274T>G

8 papers

NM_001040142.2

p.S1758R

c.5272A>C

1 paper

NM_001040142.2

p.V1768L

c.5302G>C