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

2 papers

NM_172364.5

p.L699F

c.2095C>T

Surrounding Variants

1 paper

NM_172364.5

p.R697_L699del3

c.2089_2096del9

3 papers

NM_172364.5

p.H696R

c.2087A>G

1 paper

NM_172364.5

p.D695H

c.2083G>C

1 paper

NM_172364.5

p.E703D

c.2109G>T

1 paper

NM_172364.5

p.E703D

c.2109G>C

9 papers

NM_172364.5

p.R707H

c.2120G>A

3 papers

NM_172364.5

p.I689V

c.2065A>G

1 paper

NM_172364.5

p.T710A

c.2128A>G

1 paper

NM_172364.5

p.A682P

c.2044G>C

1 paper

NM_172364.5

p.L679L

c.2035C>T

1 paper

NM_172364.5

p.P677P

c.2031A>C

1 paper

NM_172364.5

p.L674V

c.2020T>G