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.G556G

c.1668C>T

Surrounding Variants

1 paper

NM_006030.4

p.Q567H

c.1701G>T

1 paper

NM_006030.4

p.Q567H

c.1701G>C

1 paper

NM_006030.4

p.Q567_T568Splc

c.1701+2T>C

1 paper

NM_006030.4

p.Q567_T568Splc

c.1701+6C>G

1 paper

NM_006030.4

p.A582V

c.1745C>T

4 papers

NM_006030.4

p.R593P

c.1778G>C

1 paper

NM_006030.4

p.R593H

c.1778G>A

1 paper

NM_006030.4

p.K611K

c.1833G>A

1 paper

NM_006030.4

p.D614G

c.1841A>G

1 paper

NM_006030.4

p.E615V

c.1844A>T

1 paper

NM_006030.4

p.I618R

c.1853T>G

1 paper

NM_006030.4

p.T542T

c.1626G>A