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.N868K

c.2604T>G

Surrounding Variants

2 papers

NM_001040142.2

p.N868K

c.2604T>A

1 paper

NM_001040142.2

p.M869I

c.2607G>A

1 paper

NM_001040142.2

p.M869I

c.2607G>C

1 paper

NM_001040142.2

p.M869I

c.2607G>T

1 paper

NM_001040142.2

p.I871T

c.2612T>C

1 paper

NM_001040142.2

p.I873T

c.2618T>C

4 papers

NM_001040142.2

p.I873M

c.2619C>G

1 paper

NM_001040142.2

p.I873I

c.2619C>T

2 papers

NM_001040142.2

p.I874fs

c.2620_2621fs

1 paper

NM_001040142.2

p.I874fs

c.2620_2621fs

5 papers

NM_001040142.2

p.I874_S877delFs

c.2622_2631del10

1 paper

NM_001040142.2

p.S863Y

c.2588C>A