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

3 papers

NM_018398.3

p.R731G

c.2191C>G

Surrounding Variants

2 papers

NM_018398.3

p.R731C

c.2191C>T

1 paper

NM_018398.3

p.R731H

c.2192G>A

2 papers

NM_018398.3

p.T732R

c.2195C>G

5 papers

NM_018398.3

p.T732M

c.2195C>T

1 paper

NM_018398.3

p.L734F

c.2200C>T

1 paper

NM_018398.3

p.V723M

c.2167G>A

1 paper

NM_018398.3

p.V723L

c.2167G>C

1 paper

NM_018398.3

p.V723L

c.2167G>T

2 papers

NM_018398.3

p.G722S

c.2164G>A

1 paper

NM_018398.3

p.A743D

c.2228C>A

1 paper

NM_018398.3

p.Q749Splc

c.2246+16C>A

4 papers

NM_018398.3

p.A698V

c.2093C>T