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.I199_T200delFs

c.597_598delTA

Surrounding Variants

1 paper

NM_001040142.2

p.I199V

c.595A>G

2 papers

NM_001040142.2

p.V198D

c.593T>A

1 paper

NM_001040142.2

p.V198I

c.592G>A

1 paper

NM_001040142.2

p.V198_I199insFs

c.594_597dup4

1 paper

NM_001040142.2

p.T197I

c.590C>T

1 paper

NM_001040142.2

p.A202delFs

c.604delG

10 papers

NM_001040142.2

p.A202V

c.605C>T

10 papers

NM_001040142.2

p.A202Splc

c.605+1G>A

4 papers

NM_001040142.2

p.A202Splc

c.605+1G>T

1 paper

NM_001040142.2

p.F196delFs

c.587_588delTC

4 papers

NM_001040142.2

p.D195G

c.584A>G

1 paper

NM_001040142.2

p.A202Splc

c.605+3A>G