Varaico: Literature-Extracted Genetic Variants

CACNA2D3

148 papers

RefSeq Summary

This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membr...

Pfam Domains

VWA_Naa 113–229UCSCVWA N-terminal

VWA_3aa 255–419UCSCvon Willebrand factor type A domain

VGCC_alpha2aa 642–1068UCSCNeuronal voltage-dependent calcium channel alpha 2acd

Gene Aliases

HGNC Name

calcium voltage-gated channel auxiliary subunit alpha2delta 3

HGNC Alias Symbols

HSA272268; alpha2delta-3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_018398.3

p.G498R

c.1492G>C

Surrounding Variants

2 papers

NM_018398.3

p.G498R

c.1492G>A

1 paper

NM_018398.3

p.D503Y

c.1507G>T

1 paper

NM_018398.3

p.R491R

c.1473A>G

1 paper

NM_018398.3

p.P505S

c.1513C>T

1 paper

NM_018398.3

p.P505Q

c.1514C>A

1 paper

NM_018398.3

p.T490_R491Splc

c.1471-6C>T

1 paper

NM_018398.3

p.E508K

c.1522G>A

7 papers

NM_018398.3

p.E508*

c.1522G>T

1 paper

NM_018398.3

p.T512N

c.1535C>A

1 paper

NM_018398.3

p.T490_R491Splc

c.1470+15T>G

1 paper

NM_018398.3

p.T490I

c.1469C>T

1 paper

NM_018398.3

p.K486M

c.1457A>T