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.F184L

c.552C>G

Surrounding Variants

1 paper

NM_001040142.2

p.T185_D189delFs

c.553_566del14

1 paper

NM_001040142.2

p.F184C

c.551T>G

1 paper

NM_001040142.2

p.T185I

c.554C>T

1 paper

NM_001040142.2

p.F186_L187delFs

c.558_559delTT

2 papers

NM_001040142.2

p.F184delFs

c.551delT

1 paper

NM_001040142.2

p.D183_F184insA

c.547_551ins3

2 papers

NM_001040142.2

p.L181F

c.543A>C

1 paper

NM_001040142.2

p.L181F

c.543A>T

29 papers

NM_001040142.2

p.R188W

c.562C>T

1 paper

NM_001040142.2

p.C180_L181insFs

c.540_543dup4

1 paper

NM_001040142.2

p.D189insFs

c.567dupT

1 paper

NM_001040142.2

p.P190fs

c.568_569fs