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.M1879I

c.5637G>C

Surrounding Variants

1 paper

NM_001040142.2

p.M1879I

c.5637G>A

1 paper

NM_001040142.2

p.M1879I

c.5637G>T

8 papers

NM_001040142.2

p.E1880K

c.5638G>A

9 papers

NM_001040142.2

p.M1879T

c.5636T>C

1 paper

NM_001040142.2

p.M1879V

c.5635A>G

1 paper

NM_001040142.2

p.E1880D

c.5640A>C

1 paper

NM_001040142.2

p.E1880D

c.5640A>T

2 papers

NM_001040142.2

p.E1881*

c.5641G>T

1 paper

NM_001040142.2

p.E1881D

c.5643G>C

1 paper

NM_001040142.2

p.E1881D

c.5643G>T

19 papers

NM_001040142.2

p.R1882G

c.5644C>G

1 paper

NM_001040142.2

p.R1882*

c.5644C>T