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

16 papers

NM_001040142.2

p.G1522A

c.4565G>C

Surrounding Variants

1 paper

NM_001040142.2

p.Q1521fs

c.4561_4562fs

3 papers

NM_001040142.2

p.Q1521*

c.4561C>T

1 paper

NM_001040142.2

p.D1526fs

c.4576_4577fs

1 paper

NM_001040142.2

p.D1526delFs

c.4578delT

1 paper

NM_001040142.2

p.D1526E

c.4578T>A

1 paper

NM_001040142.2

p.D1526E

c.4578T>G

3 papers

NM_001040142.2

p.V1528fs

c.4582_4583fs

1 paper

NM_001040142.2

p.T1529_V1532del4

c.4585_4595del12

1 paper

NM_001040142.2

p.T1529A

c.4585A>G

7 papers

NM_001040142.2

p.Q1531K

c.4591C>A

3 papers

NM_001040142.2

p.Q1531*

c.4591C>T

1 paper

NM_001040142.2

p.V1532A

c.4595T>C