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.S457S

c.1371A>C

Surrounding Variants

1 paper

NM_172364.5

p.I456delFs

c.1368delG

1 paper

NM_172364.5

p.T454M

c.1361C>T

3 papers

NM_172364.5

p.Q463L

c.1388A>T

1 paper

NM_172364.5

p.S457_Q463del0

c.1370_1387del18

1 paper

NM_172364.5

p.M467insFs

c.1399_1400insGA

1 paper

NM_172364.5

p.E468V

c.1403A>T

1 paper

NM_172364.5

p.D484N

c.1450G>A

1 paper

NM_172364.5

p.Y491F

c.1472A>T

1 paper

NM_172364.5

p.C447S

c.1340G>C

1 paper

NM_172364.5

p.C447S

c.1339T>A

1 paper

NM_172364.5

p.K443fs

c.1327_1328fs

2 papers

NM_172364.5

p.R426*

c.1276C>T