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

1 paper

NM_172364.5

p.D796E

c.2388C>G

Surrounding Variants

1 paper

NM_172364.5

p.D796E

c.2388C>A

1 paper

NM_172364.5

p.D796N

c.2386G>A

1 paper

NM_172364.5

p.V792fs

c.2374_2375fs

1 paper

NM_172364.5

p.S791insFs

c.2373dupC

1 paper

NM_172364.5

p.S791T

c.2372G>C

11 papers

NM_172364.5

p.Y802*

c.2406C>G

13 papers

NM_172364.5

p.Y802*

c.2406C>A

2 papers

NM_172364.5

p.R803C

c.2407C>T

1 paper

NM_172364.5

p.R803H

c.2408G>A

4 papers

NM_172364.5

p.E789_A790insFs

c.2367_2368insC

1 paper

NM_172364.5

p.E807D

c.2421G>T

1 paper

NM_172364.5

p.E807D

c.2421G>C