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

2 papers

NM_000722.4

p.P825P

c.2475A>G

Surrounding Variants

1 paper

NM_000722.4

p.K830_R831insFs

c.2490_2491insT

2 papers

NM_000722.4

p.D834D

c.2502C>T

1 paper

NM_000722.4

p.D820H

c.2458G>C

1 paper

NM_000722.4

p.S808C

c.2423C>G

1 paper

NM_000722.4

p.D854Y

c.2560G>T

1 paper

NM_000722.4

p.N857K

c.2571T>G

1 paper

NM_000722.4

p.N857K

c.2571T>A

1 paper

NM_000722.4

p.Q791H

c.2373A>T

1 paper

NM_000722.4

p.Q791H

c.2373A>C

1 paper

NM_000722.4

p.A785P

c.2353G>C

2 papers

NM_000722.4

p.S778L

c.2333C>T

1 paper

NM_000722.4

p.P773A

c.2317C>G