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.I400I

c.1200C>T

Surrounding Variants

1 paper

NM_172364.5

p.I403N

c.1208T>A

1 paper

NM_172364.5

p.N397Fs

c.1189delinsTGFs

1 paper

NM_172364.5

p.S404S

c.1212C>T

1 paper

NM_172364.5

p.A407S

c.1219G>T

1 paper

NM_172364.5

p.E389G

c.1166A>G

1 paper

NM_172364.5

p.P413L

c.1238C>T

1 paper

NM_172364.5

p.E416Q

c.1246G>C

1 paper

NM_172364.5

p.Q382*

c.1144C>T

1 paper

NM_172364.5

p.V372D

c.1115T>A

1 paper

NM_172364.5

p.V362L

c.1084G>T

1 paper

NM_172364.5

p.V362L

c.1084G>C

1 paper

NM_172364.5

p.K359I

c.1076A>T