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

7 papers

NM_001040142.2

p.E1803G

c.5408A>G

Surrounding Variants

1 paper

NM_001040142.2

p.E1803V

c.5408A>T

1 paper

NM_001040142.2

p.E1803Q

c.5407G>C

1 paper

NM_001040142.2

p.P1807S

c.5419C>T

1 paper

NM_001040142.2

p.F1798fs

c.5392_5393fs

2 papers

NM_001040142.2

p.M1797fs

c.5389_5390fs

1 paper

NM_001040142.2

p.E1796_M1797insFs

c.5387_5390dup4

6 papers

NM_001040142.2

p.Q1811E

c.5431C>G

1 paper

NM_001040142.2

p.D1794V

c.5381A>T

2 papers

NM_001040142.2

p.D1793N

c.5377G>A

1 paper

NM_001040142.2

p.L1790L

c.5368C>T

1 paper

NM_001040142.2

p.D1820N

c.5458G>A

3 papers

NM_001040142.2

p.F1821_A1822del2

c.5461_5465del6