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

4 papers

NM_001040142.2

p.P77insFs

c.229dupC

Surrounding Variants

1 paper

NM_001040142.2

p.L78delFs

c.232delC

1 paper

NM_001040142.2

p.P77_D80del0

c.229_240del12

2 papers

NM_001040142.2

p.P77T

c.229C>A

1 paper

NM_001040142.2

p.P77fs

c.229_230fs

1 paper

NM_001040142.2

p.P77S

c.229C>T

1 paper

NM_001040142.2

p.V76_P77insFs

c.228_231dup4

1 paper

NM_001040142.2

p.V76_P77delFs

c.228_229delGC

1 paper

NM_001040142.2

p.S75*

c.224C>A

3 papers

NM_001040142.2

p.L78fs

c.232_233fs

1 paper

NM_001040142.2

p.S75*

c.224C>G

1 paper

NM_001040142.2

p.L78fs

c.232_233fs

1 paper

NM_001040142.2

p.L78Q

c.233T>A