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.A812V

c.2435C>T

Surrounding Variants

1 paper

NM_001040142.2

p.I810L

c.2428A>C

1 paper

NM_001040142.2

p.I810L

c.2428A>T

1 paper

NM_001040142.2

p.K809R

c.2426A>G

2 papers

NM_001040142.2

p.Y816F

c.2447A>T

1 paper

NM_001040142.2

p.E805Q

c.2413G>C

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.F802C

c.2405T>G

1 paper

NM_001040142.2

p.F802insFs

c.2404dupT

1 paper

NM_001040142.2

p.W823G

c.2467T>G

1 paper

NM_001040142.2

p.W823*

c.2468G>A

1 paper

NM_001040142.2

p.W823*

c.2469G>A