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

14 papers

NM_001040142.2

p.C1386R

c.4156T>C

Surrounding Variants

1 paper

NM_001040142.2

p.C1386G

c.4156T>G

1 paper

NM_001040142.2

p.K1387fs

c.4159_4160fs

1 paper

NM_001040142.2

p.Y1383*

c.4149C>A

1 paper

NM_001040142.2

p.Y1383*

c.4149C>G

1 paper

NM_001040142.2

p.Y1383insFs

c.4148dupA

1 paper

NM_001040142.2

p.N1382I

c.4145A>T

1 paper

NM_001040142.2

p.N1381T

c.4142A>C

1 paper

NM_001040142.2

p.E1391insFs

c.4173dupG

1 paper

NM_001040142.2

p.S1392S

c.4176C>T

1 paper

NM_001040142.2

p.N1393T

c.4178A>C

1 paper

NM_001040142.2

p.S1378G

c.4132A>G

2 papers

NM_001040142.2

p.Q1394*

c.4180C>T