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.G655S

c.1963G>A

Surrounding Variants

1 paper

NM_172364.5

p.L652del1

c.1954_1956delCAG

1 paper

NM_172364.5

p.S647N

c.1940G>A

1 paper

NM_172364.5

p.S647Splc

c.1941-2A>G

2 papers

NM_172364.5

p.G670S

c.2008G>A

1 paper

NM_172364.5

p.S647N

c.1940G>A

1 paper

NM_172364.5

p.F638del1

c.1912_1913delGAA

11 papers

NM_172364.5

p.R628*

c.1882C>T

1 paper

NM_172364.5

p.G670Splc

c.2009-3C>T

2 papers

NM_172364.5

p.G670S

c.2008G>A

1 paper

NM_172364.5

p.L674V

c.2020T>G

1 paper

NM_172364.5

p.P677P

c.2031A>C

1 paper

NM_172364.5

p.L679L

c.2035C>T