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.W281R

c.841T>C

Surrounding Variants

1 paper

NM_001040142.2

p.W281R

c.841T>A

1 paper

NM_001040142.2

p.W281insFs

c.842dupG

1 paper

NM_001040142.2

p.W281fs

c.841_842fs

1 paper

NM_001040142.2

p.W281*

c.842G>A

1 paper

NM_001040142.2

p.W281*

c.843G>A

1 paper

NM_001040142.2

p.W281C

c.843G>C

1 paper

NM_001040142.2

p.W281C

c.843G>T

1 paper

NM_001040142.2

p.P282T

c.844C>A

1 paper

NM_001040142.2

p.P282S

c.844C>T

1 paper

NM_001040142.2

p.P282L

c.845C>T

1 paper

NM_001040142.2

p.L279*

c.836T>A

1 paper

NM_001040142.2

p.C278Y

c.833G>A