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.L1573P

c.4718T>C

Surrounding Variants

8 papers

NM_001040142.2

p.I1571T

c.4712T>C

4 papers

NM_001040142.2

p.G1576delFs

c.4726delG

2 papers

NM_001040142.2

p.G1576R

c.4726G>A

2 papers

NM_001040142.2

p.G1576R

c.4726G>C

3 papers

NM_001040142.2

p.G1576fs

c.4726_4727fs

1 paper

NM_001040142.2

p.N1567K

c.4701T>A

1 paper

NM_001040142.2

p.N1567K

c.4701T>G

1 paper

NM_001040142.2

p.L1580L

c.4738C>T

1 paper

NM_001040142.2

p.W1565R

c.4693T>A

1 paper

NM_001040142.2

p.W1565R

c.4693T>C

1 paper

NM_001040142.2

p.Y1564S

c.4691A>C

2 papers

NM_001040142.2

p.I1583T

c.4748T>C