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

1–12 of 237 variants

26 papers

NM_000722.4

p.S755T

c.2264G>C

19 papers

NM_000722.4

p.S709N

c.2126G>A

10 papers

NM_000722.4

p.D550Y

c.1648G>T

9 papers

NM_000722.4

p.Q917H

c.2751A>T

8 papers

NM_000722.4

p.Q917H

c.2751A>C

7 papers

NM_000722.4

p.R351T

c.1052G>C

5 papers

NM_000722.4

p.D1045A

c.3134A>C

4 papers

NM_000722.4

p.S956T

c.2866T>A

3 papers

NM_000722.4

p.C5_A8insFs

c.13_23dup11

3 papers

NM_000722.4

p.R76C

c.226C>T

3 papers

NM_000722.4

p.G209D

c.626G>A

3 papers

NM_000722.4

p.S956Y

c.2867C>A