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

1 paper

NM_018398.3

p.R440W

c.1318C>T

Surrounding Variants

1 paper

NM_018398.3

p.P441delFs

c.1321delC

1 paper

NM_018398.3

p.P441fs

c.1321_1322fs

1 paper

NM_018398.3

p.V437M

c.1309G>A

1 paper

NM_018398.3

p.Q428R

c.1283A>G

3 papers

NM_018398.3

p.E454K

c.1360G>A

1 paper

NM_018398.3

p.Q420Q

c.1260G>A

1 paper

NM_018398.3

p.Q420delFs

c.1259delA

1 paper

NM_018398.3

p.F417L

c.1251T>A

1 paper

NM_018398.3

p.F417L

c.1251T>G

1 paper

NM_018398.3

p.F417L

c.1249T>C