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

4 papers

NM_001040142.2

p.H930Q

c.2790C>A

Surrounding Variants

4 papers

NM_001040142.2

p.H930Q

c.2790C>G

1 paper

NM_001040142.2

p.H930P

c.2789A>C

1 paper

NM_001040142.2

p.F929F

c.2787C>T

3 papers

NM_001040142.2

p.F932I

c.2794T>A

2 papers

NM_001040142.2

p.F928S

c.2783T>C

6 papers

NM_001040142.2

p.F928C

c.2783T>G

1 paper

NM_001040142.2

p.D927N

c.2779G>A

1 paper

NM_001040142.2

p.I934I

c.2802C>A

1 paper

NM_001040142.2

p.M925I

c.2775G>A

1 paper

NM_001040142.2

p.M925I

c.2775G>C

1 paper

NM_001040142.2

p.M925I

c.2775G>T

3 papers

NM_001040142.2

p.M925T

c.2774T>C