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.K486M

c.1457A>T

Surrounding Variants

1 paper

NM_018398.3

p.V483L

c.1447G>C

1 paper

NM_018398.3

p.V483L

c.1447G>T

1 paper

NM_018398.3

p.T490I

c.1469C>T

1 paper

NM_018398.3

p.A480T

c.1438G>A

1 paper

NM_018398.3

p.T490_R491Splc

c.1470+15T>G

1 paper

NM_018398.3

p.V474I

c.1420G>A

1 paper

NM_018398.3

p.P473P

c.1419C>T

1 paper

NM_018398.3

p.G472V

c.1415G>T

1 paper

NM_018398.3

p.T490_R491Splc

c.1471-6C>T

1 paper

NM_018398.3

p.R491R

c.1473A>G

2 papers

NM_018398.3

p.G498R

c.1492G>A

2 papers

NM_018398.3

p.G498R

c.1492G>C