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.N223D

c.667A>G

Surrounding Variants

1 paper

NM_006030.4

p.I221I

c.663C>A

1 paper

NM_006030.4

p.R239S

c.715C>A

1 paper

NM_006030.4

p.L245L

c.735G>C

1 paper

NM_006030.4

p.G251A

c.752G>C

5 papers

NM_006030.4

p.P261L

c.782C>T

1 paper

NM_006030.4

p.A262Splc

c.784+2T>A

1 paper

NM_006030.4

p.A262Splc

c.785-2A>G

1 paper

NM_006030.4

p.T263I

c.788C>T

1 paper

NM_006030.4

p.W265C

c.795G>T

1 paper

NM_006030.4

p.W265C

c.795G>C

1 paper

NM_006030.4

p.W281C

c.843G>C

1 paper

NM_006030.4

p.Q284*

c.850C>T