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

40 papers

NM_001040142.2

p.E1211K

c.3631G>A

Surrounding Variants

1 paper

NM_001040142.2

p.I1214V

c.3640A>G

1 paper

NM_001040142.2

p.I1214S

c.3641T>G

1 paper

NM_001040142.2

p.V1215F

c.3643G>T

3 papers

NM_001040142.2

p.T1200A

c.3598A>G

1 paper

NM_001040142.2

p.G1223R

c.3667G>A

1 paper

NM_001040142.2

p.G1223R

c.3667G>C

1 paper

NM_001040142.2

p.A1224_L1225insFs

c.3671_3674dup4

2 papers

NM_001040142.2

p.A1224S

c.3670G>T

2 papers

NM_001040142.2

p.L1225_A1226Splc

c.3675+2T>A

1 paper

NM_001040142.2

p.W1194fs

c.3580_3581fs

2 papers

NM_001040142.2

p.L1193_W1194delFs

c.3579_3580delCT

1 paper

NM_001040142.2

p.C1182Y

c.3545G>A