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

2 papers

NM_001040142.2

p.M951I

c.2853G>C

Surrounding Variants

2 papers

NM_001040142.2

p.M951I

c.2853G>A

2 papers

NM_001040142.2

p.M951I

c.2853G>T

1 paper

NM_001040142.2

p.E952K

c.2854G>A

1 paper

NM_001040142.2

p.M951R

c.2852T>G

1 paper

NM_001040142.2

p.M951V

c.2851A>G

1 paper

NM_001040142.2

p.C950*

c.2850T>A

1 paper

NM_001040142.2

p.C950Y

c.2849G>A

1 paper

NM_001040142.2

p.V953_A954insC

c.2857_2861ins3

1 paper

NM_001040142.2

p.A954T

c.2860G>A

1 paper

NM_001040142.2

p.T957N

c.2870C>A

3 papers

NM_001040142.2

p.M958V

c.2872A>G

3 papers

NM_001040142.2

p.C959R

c.2875T>C