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

3 papers

NM_001040142.2

p.M1545I

c.4635G>C

Surrounding Variants

3 papers

NM_001040142.2

p.M1545I

c.4635G>A

3 papers

NM_001040142.2

p.M1545I

c.4635G>T

8 papers

NM_001040142.2

p.M1545V

c.4633A>G

1 paper

NM_001040142.2

p.N1544D

c.4630A>G

4 papers

NM_001040142.2

p.M1548V

c.4642A>G

2 papers

NM_001040142.2

p.M1548T

c.4643T>C

2 papers

NM_001040142.2

p.M1548I

c.4644G>A

3 papers

NM_001040142.2

p.M1548I

c.4644G>C

2 papers

NM_001040142.2

p.M1548I

c.4644G>T

3 papers

NM_001040142.2

p.C1542R

c.4624T>C

2 papers

NM_001040142.2

p.I1541N

c.4622T>A

1 paper

NM_001040142.2

p.E1551Q

c.4651G>C