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

5 papers

NM_001040142.2

p.W1594R

c.4780T>C

Surrounding Variants

6 papers

NM_001040142.2

p.W1594R

c.4780T>A

1 paper

NM_001040142.2

p.G1593_W1594insFs

c.4779_4780ins4

3 papers

NM_001040142.2

p.W1594C

c.4782G>C

3 papers

NM_001040142.2

p.W1594C

c.4782G>T

6 papers

NM_001040142.2

p.G1593R

c.4777G>A

5 papers

NM_001040142.2

p.G1593R

c.4777G>C

8 papers

NM_001040142.2

p.I1596S

c.4787T>G

13 papers

NM_001040142.2

p.F1597L

c.4789T>C

13 papers

NM_001040142.2

p.F1597L

c.4791T>A

1 paper

NM_001040142.2

p.F1590S

c.4769T>C

13 papers

NM_001040142.2

p.F1597L

c.4791T>G

2 papers

NM_001040142.2

p.D1598fs

c.4792_4793fs