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.E31G

c.92A>G

Surrounding Variants

1 paper

NM_001040142.2

p.E31Q

c.91G>C

1 paper

NM_001040142.2

p.E32E

c.96G>A

1 paper

NM_001040142.2

p.A30fs

c.88_89fs

1 paper

NM_001040142.2

p.A30delFs

c.88delG

1 paper

NM_001040142.2

p.A34_K35delFs

c.100_103del4

1 paper

NM_001040142.2

p.A34_E40delFs

c.100_118del19

1 paper

NM_001040142.2

p.I29insFs

c.85dupA

2 papers

NM_001040142.2

p.A34T

c.100G>A

1 paper

NM_001040142.2

p.A34delFs

c.101_102delCT

1 paper

NM_001040142.2

p.R28H

c.83G>A

7 papers

NM_001040142.2

p.R28C

c.82C>T

1 paper

NM_001040142.2

p.A34_K35insFs

c.102_103insG