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.M1insFs

c.1_2insT

Surrounding Variants

1 paper

NM_000722.4

p.M1insFs

c.2_3insA

1 paper

NM_000722.4

p.M1insFs

c.2dupT

1 paper

NM_000722.4

p.M1I

c.3G>A

2 papers

NM_000722.4

p.M1insFs

c.3dupG

1 paper

NM_000722.4

p.A2insFs

c.5dupC

1 paper

NM_000722.4

p.A3insFs

c.9dupT

1 paper

NM_000722.4

p.L6L

c.16C>T

3 papers

NM_000722.4

p.C5_A8insFs

c.13_23dup11

2 papers

NM_000722.4

p.L9fs

c.25_26fs

2 papers

NM_000722.4

p.T32Splc

c.95+10C>T

1 paper

NM_000722.4

p.T32Splc

c.95+23G>A