Varaico: Literature-Extracted Genetic Variants

CACNA2D3

148 papers

RefSeq Summary

This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membr...

Pfam Domains

VWA_Naa 113–229UCSCVWA N-terminal

VWA_3aa 255–419UCSCvon Willebrand factor type A domain

VGCC_alpha2aa 642–1068UCSCNeuronal voltage-dependent calcium channel alpha 2acd

Gene Aliases

HGNC Name

calcium voltage-gated channel auxiliary subunit alpha2delta 3

HGNC Alias Symbols

HSA272268; alpha2delta-3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018398.3

p.D290N

c.868G>A

Surrounding Variants

1 paper

NM_018398.3

p.G287R

c.859G>A

1 paper

NM_018398.3

p.G287R

c.859G>C

1 paper

NM_018398.3

p.L286R

c.857T>G

2 papers

NM_018398.3

p.A275V

c.824C>T

6 papers

NM_018398.3

p.A275T

c.823G>A

1 paper

NM_018398.3

p.T273S

c.817A>T

1 paper

NM_018398.3

p.R271H

c.812G>A

1 paper

NM_018398.3

p.R271L

c.812G>T

1 paper

NM_018398.3

p.R271C

c.811C>T

1 paper

NM_018398.3

p.V261I

c.781G>A

1 paper

NM_018398.3

p.P254L

c.761C>T

1 paper

NM_018398.3

p.T252S

c.755C>G