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.E1070K

c.3208G>A

Surrounding Variants

1 paper

NM_172364.5

p.Q1069L

c.3206A>T

2 papers

NM_172364.5

p.L1068P

c.3203T>C

1 paper

NM_172364.5

p.L1053ins1

c.3158_3159insCCT

1 paper

NM_172364.5

p.V1042V

c.3126G>A

1 paper

NM_172364.5

p.D1083D

c.3249C>T

1 paper

NM_172364.5

p.R1092P

c.3275G>C

1 paper

NM_172364.5

p.Q1037*

c.3109C>T

1 paper

NM_172364.5

p.C1033C

c.3099C>T

2 papers

NM_172364.5

p.E1032*

c.3094G>T

1 paper

NM_172364.5

p.V1031delFs

c.3092delA

2 papers

NM_172364.5

p.P1022L

c.3065C>T

1 paper

NM_172364.5

p.Q1021H

c.3063G>T