Varaico: Literature-Extracted Genetic Variants

CACNA2D4

209 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 148–264UCSCVWA N-terminal

VWA_3aa 290–455UCSCvon Willebrand factor type A domain

VGCC_alpha2aa 680–1110UCSCNeuronal voltage-dependent calcium channel alpha 2acd

Gene Aliases

HGNC Name

calcium voltage-gated channel auxiliary subunit alpha2delta 4

HGNC Alias Symbol

alpha2delta-4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

9 papers

NM_172364.5

p.I327V

c.979A>G

Surrounding Variants

1 paper

NM_172364.5

p.I329insFs

c.985_986insC

1 paper

NM_172364.5

p.A331V

c.992C>T

3 papers

NM_172364.5

p.D319N

c.955G>A

1 paper

NM_172364.5

p.L318*

c.953T>A

1 paper

NM_172364.5

p.T313A

c.937A>G

1 paper

NM_172364.5

p.G300G

c.900C>A

1 paper

NM_172364.5

p.G300S

c.898G>A

1 paper

NM_172364.5

p.S299insFs

c.896_897insT

1 paper

NM_172364.5

p.V298L

c.892G>T

1 paper

NM_172364.5

p.V298L

c.892G>C

1 paper

NM_172364.5

p.Q284R

c.851A>G

1 paper

NM_172364.5

p.I283insFs

c.848_849insAT