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.T745Splc

c.2234+2T>G

Surrounding Variants

1 paper

NM_006030.4

p.A750V

c.2249C>T

1 paper

NM_006030.4

p.T760T

c.2280C>G

1 paper

NM_001174051.3

p.K773Splc

c.2318+22C>G

1 paper

NM_006030.4

p.A780V

c.2339C>T

1 paper

NM_006030.4

p.A780D

c.2339C>A

1 paper

NM_001174051.3

p.R792C

c.2374C>T

1 paper

NM_006030.4

p.S786N

c.2357G>A

1 paper

NM_006030.4

p.L698L

c.2092C>T

1 paper

NM_006030.4

p.N694K

c.2082C>G

1 paper

NM_006030.4

p.N694K

c.2082C>A

1 paper

NM_006030.4

p.N694T

c.2081A>C

1 paper

NM_006030.4

p.R828H

c.2483G>A