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

1–12 of 1913 variants

62 papers

NM_001040142.2

p.A263V

c.788C>T

58 papers

NM_001040142.2

p.R853Q

c.2558G>A

52 papers

NM_001040142.2

p.R1882Q

c.5645G>A

41 papers

NM_001040142.2

p.R1319Q

c.3956G>A

40 papers

NM_001040142.2

p.E1211K

c.3631G>A

39 papers

NM_001040142.2

p.R102*

c.304C>T

37 papers

NM_001040142.2

p.R19K

c.56G>A

35 papers

NM_001040142.2

p.L1563V

c.4687C>G

34 papers

NM_001040142.2

p.C959*

c.2877C>A

33 papers

NM_001040142.2

p.L1330F

c.3988C>T

32 papers

NM_001040142.2

p.L1342P

c.4025T>C

29 papers

NM_001040142.2

p.R188W

c.562C>T