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.W927Splc

c.2780+2T>G

Surrounding Variants

1 paper

NM_000722.4

p.T923S

c.2768C>G

1 paper

NM_000722.4

p.T923S

c.2767A>T

9 papers

NM_000722.4

p.Q917H

c.2751A>T

8 papers

NM_000722.4

p.Q917H

c.2751A>C

1 paper

NM_000722.4

p.P910S

c.2728C>T

1 paper

NM_000722.4

p.E893D

c.2679G>T

1 paper

NM_000722.4

p.E893D

c.2679G>C

1 paper

NM_000722.4

p.A881P

c.2641G>C

2 papers

NM_000722.4

p.V875delFs

c.2625delA

2 papers

NM_000722.4

p.V875fs

c.2623_2624fs

1 paper

NM_000722.4

p.V875L

c.2623G>C

1 paper

NM_000722.4

p.L870F

c.2610G>T