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

7 papers

NM_018398.3

p.C686Splc

c.2057-2A>G

Surrounding Variants

1 paper

NM_018398.3

p.C686*

c.2058T>A

1 paper

NM_018398.3

p.E689Q

c.2065G>C

5 papers

NM_018398.3

p.A698T

c.2092G>A

4 papers

NM_018398.3

p.A698V

c.2093C>T

1 paper

NM_018398.3

p.C686Splc

c.2056+108A>G

1 paper

NM_018398.3

p.C686*

c.2058T>A

1 paper

NM_018398.3

p.L684F

c.2050C>T

1 paper

NM_018398.3

p.Y676*

c.2028C>A

1 paper

NM_018398.3

p.Y676*

c.2028C>G

2 papers

NM_018398.3

p.A672V

c.2015C>T

1 paper

NM_018398.3

p.L667Q

c.2000T>A

4 papers

NM_018398.3

p.R665C

c.1993C>T