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.R1312G

c.3934A>G

Surrounding Variants

1 paper

NM_001040142.2

p.L1311L

c.3933G>A

25 papers

NM_001040142.2

p.R1312T

c.3935G>C

1 paper

NM_001040142.2

p.R1312S

c.3936G>C

1 paper

NM_001040142.2

p.R1312S

c.3936G>T

1 paper

NM_001040142.2

p.L1311R

c.3932T>G

1 paper

NM_001040142.2

p.A1310fs

c.3928_3929fs

2 papers

NM_001040142.2

p.A1310delFs

c.3929delC

1 paper

NM_001040142.2

p.A1310fs

c.3928_3929fs

1 paper

NM_001040142.2

p.R1309K

c.3926G>A

1 paper

NM_001040142.2

p.R1315R

c.3943A>C

2 papers

NM_001040142.2

p.R1315G

c.3943A>G

1 paper

NM_001040142.2

p.R1315K

c.3944G>A