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.T542T

c.1626G>A

Surrounding Variants

1 paper

NM_006030.4

p.T542M

c.1625C>T

1 paper

NM_006030.4

p.E515K

c.1543G>A

2 papers

NM_006030.4

p.W485_T486del2

c.1453_1457del6

1 paper

NM_006030.4

p.G556G

c.1668C>T

1 paper

NM_006030.4

p.Q567H

c.1701G>T

1 paper

NM_006030.4

p.Q567H

c.1701G>C

1 paper

NM_006030.4

p.Q567_T568Splc

c.1701+2T>C

1 paper

NM_006030.4

p.Q567_T568Splc

c.1701+6C>G

1 paper

NM_006030.4

p.A444T

c.1330G>A

1 paper

NM_006030.4

p.A582V

c.1745C>T

4 papers

NM_006030.4

p.N432fs

c.1294_1295fs

7 papers

NM_006030.4

p.N432delFs

c.1295delT