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

1–12 of 159 variants

8 papers

NM_006030.4

p.L1040P

c.3119T>C

7 papers

NM_006030.4

p.N432delFs

c.1295delT

5 papers

NM_006030.4

p.P261L

c.782C>T

5 papers

NM_006030.4

p.L1046P

c.3137T>C

4 papers

NM_006030.4

p.Y162*

c.486T>G

4 papers

NM_006030.4

p.Y162*

c.486T>A

4 papers

NM_006030.4

p.N432fs

c.1294_1295fs

4 papers

NM_006030.4

p.R593P

c.1778G>C

3 papers

NM_006030.4

p.Y162delFs

c.485_486delAT

2 papers

NM_006030.4

p.H28P

c.83A>C

2 papers

NM_006030.4

p.A168T

c.502G>A

2 papers

NM_006030.4

p.G402S

c.1204G>A