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.W823G

c.2467T>G

Surrounding Variants

1 paper

NM_001040142.2

p.W823*

c.2468G>A

1 paper

NM_001040142.2

p.W823*

c.2469G>A

7 papers

NM_001040142.2

p.G822S

c.2464G>A

1 paper

NM_001040142.2

p.G822R

c.2464G>C

1 paper

NM_001040142.2

p.F826Y

c.2477T>A

2 papers

NM_001040142.2

p.D827G

c.2480A>G

2 papers

NM_001040142.2

p.G828V

c.2483G>T

2 papers

NM_001040142.2

p.Y816F

c.2447A>T

2 papers

NM_001040142.2

p.V831M

c.2491G>A

1 paper

NM_001040142.2

p.V831A

c.2492T>C

1 paper

NM_001040142.2

p.S832R

c.2494A>C

1 paper

NM_001040142.2

p.S832fs

c.2494_2495fs