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.G334E

c.1001G>A

Surrounding Variants

1 paper

NM_018398.3

p.G334*

c.1000G>T

3 papers

NM_018398.3

p.I340V

c.1018A>G

1 paper

NM_018398.3

p.L327P

c.980T>C

1 paper

NM_018398.3

p.E321_H322Splc

c.964-2A>T