Varaico: Literature-Extracted Genetic Variants

Gene:DCAF8
Variant:p.P148S

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.P148S
c.442C>T
Surrounding Variants
1 paper
NM_015726.4
p.R149*
c.445C>T
1 paper
NM_015726.4
p.R151H
c.452G>A
1 paper
NM_015726.4
p.E137V
c.410A>T
1 paper
NM_015726.4
p.R159W
c.475C>T
1 paper
NM_015726.4
p.R161W
c.481C>T
1 paper
NM_015726.4
p.R161Q
c.482G>A
1 paper
NM_015726.4
p.R168C
c.502C>T
1 paper
NM_015726.4
p.Q127L
c.380A>T
1 paper
NM_015726.4
p.Q127R
c.380A>G
1 paper
NM_015726.4
p.V170A
c.509T>C
1 paper
NM_015726.4
p.Y171C
c.512A>G
1 paper
NM_015726.4
p.N124H
c.370A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."