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.W246*

c.737G>A

Surrounding Variants

1 paper

NM_018398.3

p.W246*

c.738G>A

1 paper

NM_018398.3

p.W246C

c.738G>C

1 paper

NM_018398.3

p.W246C

c.738G>T

2 papers

NM_018398.3

p.R244Q

c.731G>A

1 paper

NM_018398.3

p.D240N

c.718G>A

2 papers

NM_018398.3

p.E233V

c.698A>T

1 paper

NM_018398.3

p.E230D

c.690A>C

1 paper

NM_018398.3

p.E230D

c.690A>T

1 paper

NM_018398.3

p.Y247F

c.740A>T

1 paper

NM_018398.3

p.T252S

c.754A>T

1 paper

NM_018398.3

p.T252S

c.755C>G

1 paper

NM_018398.3

p.P254L

c.761C>T