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.C870W

c.2610T>G

Surrounding Variants

1 paper

NM_006030.4

p.R855H

c.2564G>A

1 paper

NM_006030.4

p.A843S

c.2527G>T

1 paper

NM_006030.4

p.G836D

c.2507G>A

1 paper

NM_006030.4

p.R828H

c.2483G>A

1 paper

NM_006030.4

p.L919H

c.2756T>A

1 paper

NM_006030.4

p.R927H

c.2780G>A

1 paper

NM_006030.4

p.K928M

c.2783A>T

2 papers

NM_001174051.3

p.P946fs

c.2836_2837fs

NM_006030.4

p.P939fs

c.2815_2816fs

2 papers

NM_001174051.3

p.P946delFs

c.2837delG

NM_006030.4

p.P939delFs

c.2816delG

1 paper

NM_006030.4

p.R950Q

c.2849G>A

1 paper

NM_006030.4

p.P949delFs

c.2847delG

1 paper

NM_006030.4

p.A958delFs

c.2874delT