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

2 papers

NM_006030.4

p.H28P

c.83A>C

Surrounding Variants

1 paper

NM_006030.4

p.P27_G32ins2

c.79_96dup18

1 paper

NM_006030.4

p.R34Q

c.101G>A

1 paper

NM_006030.4

p.P29_T37delFs

c.87_111del25

1 paper

NM_006030.4

p.S38delFs

c.112_113delGA

1 paper

NM_006030.4

p.G39E

c.116G>A

1 paper

NM_006030.4

p.A16V

c.47C>T

1 paper

NM_006030.4

p.P43insFs

c.128_129insG

1 paper

NM_006030.4

p.R12insFs

c.35_36insG

1 paper

NM_006030.4

p.R12delFs

c.35delC

1 paper

NM_006030.4

p.A10D

c.29C>A

1 paper

NM_006030.4

p.R6del1

c.16_17delCCG

1 paper

NM_006030.4

p.R6P

c.17G>C