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.A164V

c.491C>T

Surrounding Variants

3 papers

NM_006030.4

p.Y162delFs

c.485_486delAT

4 papers

NM_006030.4

p.Y162*

c.486T>G

4 papers

NM_006030.4

p.Y162*

c.486T>A

1 paper

NM_006030.4

p.Y161Y

c.483C>T

2 papers

NM_006030.4

p.A168T

c.502G>A

1 paper

NM_006030.4

p.L170M

c.508C>A

1 paper

NM_006030.4

p.K155_E156Splc

c.466-1G>A

1 paper

NM_006030.4

p.K155_E156Splc

c.466-4C>T

1 paper

NM_006030.4

p.E174G

c.521A>G

1 paper

NM_006030.4

p.S175R

c.523A>C

1 paper

NM_006030.4

p.S175R

c.525T>G

1 paper

NM_006030.4

p.S175R

c.525T>A