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

1–12 of 227 variants

7 papers

NM_018398.3

p.E508*

c.1522G>T

7 papers

NM_018398.3

p.C686Splc

c.2057-2A>G

6 papers

NM_018398.3

p.A275T

c.823G>A

6 papers

NM_018398.3

p.A773V

c.2318C>T

5 papers

NM_018398.3

p.A698T

c.2092G>A

5 papers

NM_018398.3

p.T732M

c.2195C>T

4 papers

NM_018398.3

p.R665C

c.1993C>T

4 papers

NM_018398.3

p.A698V

c.2093C>T

3 papers

NM_018398.3

p.I340V

c.1018A>G

3 papers

NM_018398.3

p.E454K

c.1360G>A

3 papers

NM_018398.3

p.R731G

c.2191C>G

3 papers

NM_018398.3

p.R810W

c.2428C>T