Varaico: Literature-Extracted Genetic Variants

CACNA2D1

224 papers

RefSeq Summary

The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Calcium channels mediate the influ...

Pfam Domains

VWA_Naa 104–223UCSCVWA N-terminal

VWAaa 253–425UCSCvon Willebrand factor type A domain

VGCC_alpha2aa 644–1072UCSCNeuronal voltage-dependent calcium channel alpha 2acd

Gene Aliases

HGNC Name

calcium voltage-gated channel auxiliary subunit alpha2delta 1

HGNC Previous Symbols

CACNL2A; CACNA2; MHS3; LINC01112

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000722.4

p.A211G

c.632C>G

Surrounding Variants

1 paper

NM_000722.4

p.A211T

c.631G>A

3 papers

NM_000722.4

p.G209D

c.626G>A

1 paper

NM_000722.4

p.V207G

c.620T>G

1 paper

NM_000722.4

p.K195N

c.585G>T

1 paper

NM_000722.4

p.K195N

c.585G>C

1 paper

NM_000722.4

p.A188T

c.562G>A

1 paper

NM_000722.4

p.S176L

c.527C>T