Varaico: Literature-Extracted Genetic Variants

Gene:DCAF8
Variant:p.D213E

DCAF8

57 papers

RefSeq Summary

This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [...

Pfam Domains

WD40aa 183–221UCSCWD domain, G-beta repeat
WD40aa 422–463UCSCWD domain, G-beta repeat
WD40aa 467–506UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

DDB1 and CUL4 associated factor 8

HGNC Previous Symbol

WDR42A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015726.4
p.D213E
c.639T>G
Surrounding Variants
1 paper
NM_015726.4
p.D230Y
c.688G>T
1 paper
NM_015726.4
p.H192L
c.575A>T
1 paper
NM_015726.4
p.Q181H
c.543G>C
1 paper
NM_015726.4
p.Y171C
c.512A>G
1 paper
NM_015726.4
p.V170A
c.509T>C
1 paper
NM_015726.4
p.R168C
c.502C>T
1 paper
NM_015726.4
p.R161Q
c.482G>A
1 paper
NM_015726.4
p.R161W
c.481C>T
1 paper
NM_015726.4
p.R159W
c.475C>T
1 paper
NM_015726.4
p.R151H
c.452G>A
1 paper
NM_015726.4
p.R149*
c.445C>T
1 paper
NM_015726.4
p.P148S
c.442C>T
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