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.N1030S

c.3089A>G

Surrounding Variants

1 paper

NM_000722.4

p.G1028C

c.3082G>T

1 paper

NM_000722.4

p.P1038P

c.3114C>T

1 paper

NM_000722.4

p.R1041Q

c.3122G>A

1 paper

NM_000722.4

p.D1045Y

c.3133G>T

5 papers

NM_000722.4

p.D1045A

c.3134A>C

1 paper

NM_000722.4

p.I1020M

c.3060A>G

1 paper

NM_000722.4

p.R1017*

c.3049C>T

1 paper

NM_000722.4

p.K1009N

c.3027A>T

1 paper

NM_000722.4

p.K1009N

c.3027A>C

1 paper

NM_000722.4

p.E1007D

c.3021G>T

1 paper

NM_000722.4

p.E1007D

c.3021G>C

1 paper

NM_000722.4

p.H992Y

c.2974C>T