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

8 papers

NM_006030.4

p.L1040P

c.3119T>C

Surrounding Variants

1 paper

NM_006030.4

p.L1045I

c.3133C>A

5 papers

NM_006030.4

p.L1046P

c.3137T>C

1 paper

NM_006030.4

p.R1062W

c.3184C>T

1 paper

NM_006030.4

p.R1081R

c.3243A>G

1 paper

NM_006030.4

p.A1020V

c.3059C>T

2 papers

NM_006030.4

p.P999S

c.2995C>T

1 paper

NM_006030.4

p.S998I

c.2993G>T

3 papers

NM_006030.4

p.D991N

c.2971G>A

NM_001174051.3

p.D998N

c.2992G>A

1 paper

NM_006030.4

p.L1121R

c.3362T>G

1 paper

NM_006030.4

p.P1133L

c.3398C>T

1 paper

NM_006030.4

p.Q1134H

c.3402A>T

2 papers

NM_006030.4

p.Q1134H

c.3402A>C