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.Y105N

c.313T>A

Surrounding Variants

1 paper

NM_172364.5

p.K106_S111del6

c.316_332del18

1 paper

NM_172364.5

p.V117E

c.350T>A

1 paper

NM_172364.5

p.N132I

c.395A>T

1 paper

NM_172364.5

p.R135P

c.404G>C

1 paper

NM_172364.5

p.L120_R136delFs

c.360_408del49

1 paper

NM_172364.5

p.E139V

c.416A>T

2 papers

NM_172364.5

p.A140V

c.419C>T

3 papers

NM_172364.5

p.A140G

c.419C>G

4 papers

NM_172364.5

p.Q142*

c.424C>T

1 paper

NM_172364.5

p.K103K

c.309G>A

1 paper

NM_172364.5

p.L100S

c.299T>C

2 papers

NM_172364.5

p.L99P

c.296T>C