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.Y110C

c.329A>G

Surrounding Variants

1 paper

NM_001040142.2

p.Y110*

c.330C>A

1 paper

NM_001040142.2

p.Y110*

c.330C>G

1 paper

NM_001040142.2

p.I111_L112del1

c.333_335delTTT

1 paper

NM_001040142.2

p.Y110del1

c.328_330delTAC

2 papers

NM_001040142.2

p.A108V

c.323C>T

1 paper

NM_001040142.2

p.A108delFs

c.322delG

1 paper

NM_001040142.2

p.P107S

c.319C>T

1 paper

NM_001040142.2

p.P114L

c.341C>T

1 paper

NM_001040142.2

p.A105A

c.315C>G

1 paper

NM_001040142.2

p.A105V

c.314C>T

1 paper

NM_001040142.2

p.F115L

c.345C>G

1 paper

NM_001040142.2

p.A105T

c.313G>A