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.E578_R579Splc

c.1735-6T>C

Surrounding Variants

1 paper

NM_000722.4

p.E578_R579Splc

c.1735-17G>A

1 paper

NM_000722.4

p.K583K

c.1749A>G

1 paper

NM_000722.4

p.T587delFs

c.1759delT

1 paper

NM_000722.4

p.G595R

c.1783G>C

1 paper

NM_000722.4

p.S599Splc

c.1796+8A>G

2 papers

NM_000722.4

p.E578_R579Splc

c.1734+1G>A

1 paper

NM_000722.4

p.E578D

c.1734G>C

1 paper

NM_000722.4

p.T568delFs

c.1702delT

1 paper

NM_000722.4

p.S564R

c.1690A>C

1 paper

NM_000722.4

p.E563D

c.1689A>T

1 paper

NM_000722.4

p.G562A

c.1685G>C

1 paper

NM_000722.4

p.K558R

c.1673A>G