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.F14S

c.41T>C

Surrounding Variants

1 paper

NM_001040142.2

p.F14L

c.42C>A

2 papers

NM_001040142.2

p.F14L

c.42C>G

1 paper

NM_001040142.2

p.F14L

c.40T>C

1 paper

NM_001040142.2

p.R15S

c.43C>A

1 paper

NM_001040142.2

p.R15C

c.43C>T

1 paper

NM_001040142.2

p.S13N

c.38G>A

1 paper

NM_001040142.2

p.S13T

c.38G>C

1 paper

NM_001040142.2

p.R15insFs

c.45dupC

1 paper

NM_001040142.2

p.S13fs

c.37_38fs

19 papers

NM_001040142.2

p.D12N

c.34G>A

1 paper

NM_001040142.2

p.F17I

c.49T>A

2 papers

NM_001040142.2

p.P11R

c.32C>G