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.E44fs

c.130_131fs

Surrounding Variants

2 papers

NM_001040142.2

p.E44Q

c.130G>C

1 paper

NM_001040142.2

p.E44*

c.130G>T

1 paper

NM_001040142.2

p.E44delFs

c.131_132delAG

1 paper

NM_001040142.2

p.D43H

c.127G>C

1 paper

NM_001040142.2

p.K42K

c.126G>A

1 paper

NM_001040142.2

p.K42N

c.126G>C

2 papers

NM_001040142.2

p.K42R

c.125A>G

1 paper

NM_001040142.2

p.D45E

c.135T>A

1 paper

NM_001040142.2

p.D45E

c.135T>G

1 paper

NM_001040142.2

p.D46A

c.137A>C

1 paper

NM_001040142.2

p.K42insFs

c.125dupA

1 paper

NM_001040142.2

p.R41C

c.121C>T