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.G970A

c.2909G>C

Surrounding Variants

1 paper

NM_001040142.2

p.G970E

c.2909G>A

1 paper

NM_001040142.2

p.G970_N971del2

c.2908_2912del6

1 paper

NM_001040142.2

p.L972V

c.2914C>G

1 paper

NM_001040142.2

p.V968A

c.2903T>C

1 paper

NM_001040142.2

p.V973M

c.2917G>A

1 paper

NM_001040142.2

p.V973A

c.2918T>C

1 paper

NM_001040142.2

p.V973_V974Splc

c.2919+3A>G

1 paper

NM_001040142.2

p.M965I

c.2895G>A

1 paper

NM_001040142.2

p.M965I

c.2895G>C

1 paper

NM_001040142.2

p.M965I

c.2895G>T

1 paper

NM_001040142.2

p.M965R

c.2894T>G

1 paper

NM_001040142.2

p.M964I

c.2892G>A