Varaico: Literature-Extracted Genetic Variants

Gene:WDR48
Variant:p.G11R

WDR48

141 papers

RefSeq Summary

The protein encoded by this gene has been shown to interact with ubiquitin specific peptidase 1 (USP1), activating the deubiquitinating activity of USP1 and allowing it to remove the ubiquitin moiety ...

Pfam Domains

WD40aa 24–58UCSCWD domain, G-beta repeat
WD40aa 66–103UCSCWD domain, G-beta repeat
WD40aa 66–103UCSCWD domain, G-beta repeat
WD40aa 107–145UCSCWD domain, G-beta repeat
WD40aa 157–196UCSCWD domain, G-beta repeat
WD40aa 200–238UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

WD repeat domain 48

HGNC Alias Symbols

KIAA1449; P80; SPG60; Bun62

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020839.4
p.G11R
c.31G>C
Surrounding Variants
2 papers
NM_020839.4
p.N8I
c.23A>T
1 paper
NM_020839.4
p.M1V
c.1A>G
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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."