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.N432H

c.1294A>C

Surrounding Variants

2 papers

NM_006030.4

p.N432fs

c.1294_1295fs

4 papers

NM_006030.4

p.N432fs

c.1294_1295fs

7 papers

NM_006030.4

p.N432delFs

c.1295delT

1 paper

NM_006030.4

p.V428A

c.1283T>C

1 paper

NM_006030.4

p.A444T

c.1330G>A

1 paper

NM_006030.4

p.D409_P417del9

c.1225_1250del27

1 paper

NM_006030.4

p.N415S

c.1244A>G

1 paper

NM_006030.4

p.E412Q

c.1234G>C

1 paper

NM_006030.4

p.G403D

c.1208G>A

1 paper

NM_006030.4

p.G402R

c.1204G>C

2 papers

NM_006030.4

p.G402S

c.1204G>A

1 paper

NM_006030.4

p.T400T

c.1200G>A