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.D1108A

c.3323A>C

Surrounding Variants

1 paper

NM_172364.5

p.A1106T

c.3316G>A

2 papers

NM_172364.5

p.D1114G

c.3341A>G

1 paper

NM_172364.5

p.S1118L

c.3353C>T

4 papers

NM_172364.5

p.P1119L

c.3356C>T

1 paper

NM_172364.5

p.L1136delFs

c.3407delA

1 paper

NM_172364.5

p.R1092P

c.3275G>C

1 paper

NM_172364.5

p.D1083D

c.3249C>T

1 paper

NM_172364.5

p.E1070K

c.3208G>A

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