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.R177G

c.529A>G

Surrounding Variants

2 papers

NM_001040142.2

p.R177delFs

c.530delG

1 paper

NM_001040142.2

p.L175_A176ins2

c.525_526ins6

1 paper

NM_001040142.2

p.L175_A176insFs

c.525_526dupTG

1 paper

NM_001040142.2

p.I174_L175ins6

c.520_524ins18

1 paper

NM_001040142.2

p.I174V

c.520A>G

1 paper

NM_001040142.2

p.C180_L181insFs

c.540_543dup4

1 paper

NM_001040142.2

p.K173_I174insA

c.517_521ins3

2 papers

NM_001040142.2

p.L181F

c.543A>C

1 paper

NM_001040142.2

p.L181F

c.543A>T

1 paper

NM_001040142.2

p.I172S

c.515T>G

1 paper

NM_001040142.2

p.I172_K173insFs

c.516_517insT

5 papers

NM_001040142.2

p.I172V

c.514A>G