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.L939L

c.2815C>T

Surrounding Variants

1 paper

NM_001040142.2

p.V938M

c.2812G>A

18 papers

NM_001040142.2

p.R937H

c.2810G>A

25 papers

NM_001040142.2

p.R937C

c.2809C>T

1 paper

NM_001040142.2

p.R937_V938insFs

c.2809_2812dup4

1 paper

NM_001040142.2

p.G941insFs

c.2823dupA

1 paper

NM_001040142.2

p.F936C

c.2807T>G

2 papers

NM_001040142.2

p.E942K

c.2824G>A

1 paper

NM_001040142.2

p.W943R

c.2827T>A

1 paper

NM_001040142.2

p.W943R

c.2827T>C

1 paper

NM_001040142.2

p.I934I

c.2802C>A

1 paper

NM_001040142.2

p.W943delins

c.2828_2829delinsAT

1 paper

NM_001040142.2

p.I944_V953del10

c.2830_2858del30