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.R1638C

c.4912C>T

Surrounding Variants

2 papers

NM_001040142.2

p.R1638H

c.4913G>A

1 paper

NM_001040142.2

p.R1638P

c.4913G>C

2 papers

NM_001040142.2

p.R1638L

c.4913G>T

1 paper

NM_001040142.2

p.R1638delins

c.4913_4914delinsTA

2 papers

NM_001040142.2

p.R1638R

c.4914T>A

1 paper

NM_001040142.2

p.R1638R

c.4914T>C

3 papers

NM_001040142.2

p.I1636M

c.4908C>G

1 paper

NM_001040142.2

p.I1636I

c.4908C>T

1 paper

NM_001040142.2

p.L1639P

c.4916T>C

1 paper

NM_001040142.2

p.I1636T

c.4907T>C

1 paper

NM_001040142.2

p.I1636V

c.4906A>G

2 papers

NM_001040142.2

p.I1640F

c.4918A>T