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

4 papers

NM_000722.4

p.S956T

c.2866T>A

Surrounding Variants

3 papers

NM_000722.4

p.S956Y

c.2867C>A

1 paper

NM_000722.4

p.A955V

c.2864C>T

1 paper

NM_000722.4

p.T954M

c.2861C>T

1 paper

NM_000722.4

p.T964I

c.2891C>T

1 paper

NM_000722.4

p.E947Q

c.2839G>C

1 paper

NM_000722.4

p.N973I

c.2918A>T

1 paper

NM_000722.4

p.F978L

c.2932T>C

1 paper

NM_000722.4

p.F978L

c.2934C>G

1 paper

NM_000722.4

p.F978L

c.2934C>A

1 paper

NM_000722.4

p.L943F

c.2827C>T

1 paper

NM_000722.4

p.L930I

c.2788C>A

1 paper

NM_000722.4

p.W927Splc

c.2780+2T>G