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

2 papers

NM_001040142.2

p.L1341P

c.4022T>C

Surrounding Variants

2 papers

NM_001040142.2

p.L1341R

c.4022T>G

2 papers

NM_001040142.2

p.L1341I

c.4021C>A

32 papers

NM_001040142.2

p.L1342P

c.4025T>C

1 paper

NM_001040142.2

p.V1340I

c.4018G>A

2 papers

NM_001040142.2

p.V1340fs

c.4018_4019fs

3 papers

NM_001040142.2

p.N1339_I1346delFs

c.4017_4038del22

5 papers

NM_001040142.2

p.N1339D

c.4015A>G

2 papers

NM_001040142.2

p.C1344Y

c.4031G>A

6 papers

NM_001040142.2

p.M1338T

c.4013T>C

1 paper

NM_001040142.2

p.M1338R

c.4013T>G

1 paper

NM_001040142.2

p.L1345L

c.4033C>T

2 papers

NM_001040142.2

p.I1346V

c.4036A>G