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.K353E

c.1057A>G

Surrounding Variants

1 paper

NM_006030.4

p.E334_Q337del4

c.1000_1010del12

1 paper

NM_006030.4

p.A336T

c.1006G>A

1 paper

NM_006030.4

p.Y371C

c.1112A>G

1 paper

NM_006030.4

p.E376_Y377insFs

c.1128_1129insA

1 paper

NM_006030.4

p.D325D

c.975C>T

1 paper

NM_006030.4

p.L321L

c.961C>T

1 paper

NM_006030.4

p.T320T

c.960G>A

1 paper

NM_006030.4

p.D319G

c.956A>G

1 paper

NM_006030.4

p.T312S

c.934A>T

1 paper

NM_006030.4

p.L305L

c.915G>C

1 paper

NM_006030.4

p.F399F

c.1197C>T

1 paper

NM_006030.4

p.T400T

c.1200G>A