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

1–12 of 233 variants

13 papers

NM_172364.5

p.Y802*

c.2406C>A

11 papers

NM_172364.5

p.R628*

c.1882C>T

11 papers

NM_172364.5

p.Y802*

c.2406C>G

9 papers

NM_172364.5

p.I327V

c.979A>G

9 papers

NM_172364.5

p.R707H

c.2120G>A

6 papers

NM_172364.5

p.L817_R818insFs

c.2451_2452insC

4 papers

NM_172364.5

p.Q142*

c.424C>T

4 papers

NM_172364.5

p.E789_A790insFs

c.2367_2368insC

4 papers

NM_172364.5

p.P1119L

c.3356C>T

3 papers

NM_172364.5

p.A140G

c.419C>G

3 papers

NM_172364.5

p.D319N

c.955G>A

3 papers

NM_172364.5

p.Q463L

c.1388A>T