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

3 papers

NM_000722.4

p.R76C

c.226C>T

Surrounding Variants

1 paper

NM_000722.4

p.Q77H

c.231G>T

1 paper

NM_000722.4

p.Q77H

c.231G>C

1 paper

NM_000722.4

p.V70A

c.209T>C

1 paper

NM_000722.4

p.V70L

c.208G>T

1 paper

NM_000722.4

p.V70L

c.208G>C

1 paper

NM_000722.4

p.A82T

c.244G>A

1 paper

NM_000722.4

p.Y68H

c.202T>C

1 paper

NM_000722.4

p.I86M

c.258T>G

1 paper

NM_000722.4

p.K63N

c.189A>T

1 paper

NM_000722.4

p.S91G

c.271A>G

1 paper

NM_000722.4

p.R93T

c.278G>C

1 paper

NM_000722.4

p.S94Y

c.281C>A