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.I1583T

c.4748T>C

Surrounding Variants

2 papers

NM_001040142.2

p.S1584C

c.4751C>G

1 paper

NM_001040142.2

p.S1584F

c.4751C>T

1 paper

NM_001040142.2

p.L1585V

c.4753C>G

2 papers

NM_001040142.2

p.R1586H

c.4757G>A

1 paper

NM_001040142.2

p.L1580L

c.4738C>T

15 papers

NM_001040142.2

p.Y1589C

c.4766A>G

1 paper

NM_001040142.2

p.F1590S

c.4769T>C

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

4 papers

NM_001040142.2

p.G1576delFs

c.4726delG

6 papers

NM_001040142.2

p.G1593R

c.4777G>A