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.L1611P

c.4832T>C

Surrounding Variants

1 paper

NM_001040142.2

p.A1612T

c.4834G>A

3 papers

NM_001040142.2

p.A1612G

c.4835C>G

1 paper

NM_001040142.2

p.M1609V

c.4825A>G

5 papers

NM_001040142.2

p.L1614P

c.4841T>C

1 paper

NM_001040142.2

p.L1614L

c.4842G>C

1 paper

NM_001040142.2

p.G1608Splc

c.4823-2A>C

5 papers

NM_001040142.2

p.G1608Splc

c.4823-2A>T

1 paper

NM_001040142.2

p.I1615fs

c.4843_4844fs

1 paper

NM_001040142.2

p.P1622T

c.4864C>A

12 papers

NM_001040142.2

p.P1622S

c.4864C>T

10 papers

NM_001040142.2

p.T1623N

c.4868C>A

2 papers

NM_001040142.2

p.F1625fs

c.4873_4874fs