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.V843A

c.2528T>C

Surrounding Variants

1 paper

NM_001040142.2

p.N842S

c.2525A>G

1 paper

NM_001040142.2

p.L840F

c.2520G>C

1 paper

NM_001040142.2

p.L840F

c.2520G>T

3 papers

NM_001040142.2

p.L846F

c.2538G>C

3 papers

NM_001040142.2

p.L846F

c.2538G>T

1 paper

NM_001040142.2

p.G839S

c.2515G>A

1 paper

NM_001040142.2

p.V848A

c.2543T>C

1 paper

NM_001040142.2

p.L849I

c.2545C>A

2 papers

NM_001040142.2

p.E837Q

c.2509G>C

1 paper

NM_001040142.2

p.E837delFs

c.2510delA

1 paper

NM_001040142.2

p.R850G

c.2548C>G

6 papers

NM_001040142.2

p.R850*

c.2548C>T