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.Q27Q

c.81A>G

Surrounding Variants

1 paper

NM_001040142.2

p.Q27R

c.80A>G

7 papers

NM_001040142.2

p.R28C

c.82C>T

1 paper

NM_001040142.2

p.Q27E

c.79C>G

3 papers

NM_001040142.2

p.Q27delFs

c.80delA

1 paper

NM_001040142.2

p.R28H

c.83G>A

1 paper

NM_001040142.2

p.I29insFs

c.85dupA

1 paper

NM_001040142.2

p.E26_Q27insFs

c.78_79ins31

1 paper

NM_001040142.2

p.E26V

c.77A>T

1 paper

NM_001040142.2

p.E26_Q27delFs

c.77_80del4

1 paper

NM_001040142.2

p.A30delFs

c.88delG

1 paper

NM_001040142.2

p.A30fs

c.88_89fs

1 paper

NM_001040142.2

p.I25T

c.74T>C