Varaico: Literature-Extracted Genetic Variants

CACNA2D2

154 papers

RefSeq Summary

Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit of the voltage-dependent calcium channel complex. The complex c...

Pfam Domains

VWA_Naa 141–265UCSCVWA N-terminal

VWAaa 291–464UCSCvon Willebrand factor type A domain

VGCC_alpha2aa 669–1111UCSCNeuronal voltage-dependent calcium channel alpha 2acd

Gene Aliases

HGNC Name

calcium voltage-gated channel auxiliary subunit alpha2delta 2

HGNC Alias Symbols

KIAA0558; alpha2delta-2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006030.4

p.S175delFs

c.525delA

Surrounding Variants

1 paper

NM_006030.4

p.S175R

c.525T>G

1 paper

NM_006030.4

p.S175R

c.525T>A

1 paper

NM_006030.4

p.S175R

c.523A>C

1 paper

NM_006030.4

p.E174G

c.521A>G

1 paper

NM_006030.4

p.K183K

c.549G>A

1 paper

NM_006030.4

p.F191_K198del0

c.572_592del21

1 paper

NM_006030.4

p.N202insFs

c.606dupC

1 paper

NM_006030.4

p.A206V

c.617C>T

1 paper

NM_006030.4

p.I221I

c.663C>A

1 paper

NM_006030.4

p.N223D

c.667A>G

1 paper

NM_006030.4

p.L170M

c.508C>A

2 papers

NM_006030.4

p.A168T

c.502G>A