Varaico: Literature-Extracted Genetic Variants

Gene:USP44
Variant:p.S122F

USP44

72 papers

RefSeq Summary

The protein encoded by this gene is a protease that functions as a deubiquitinating enzyme. The encoded protein is thought to help regulate the spindle assembly checkpoint by preventing early anaphase...

Pfam Domains

zf-UBPaa 29–91UCSCZn-finger in ubiquitin-hydrolases and other protein
UCHaa 273–675UCSCUbiquitin carboxyl-terminal hydrolase

Gene Aliases

HGNC Name

ubiquitin specific peptidase 44

HGNC Alias Symbol

FLJ14528

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032147.5
p.S122F
c.365C>T
Surrounding Variants
2 papers
NM_032147.5
p.M123L
c.367A>T
2 papers
NM_032147.5
p.M123L
c.367A>C
1 paper
NM_032147.5
p.R121Q
c.362G>A
1 paper
NM_032147.5
p.R118G
c.352A>G
1 paper
NM_032147.5
p.Y130*
c.390T>G
1 paper
NM_032147.5
p.Y130*
c.390T>A
1 paper
NM_032147.5
p.S107N
c.320G>A
4 papers
NM_032147.5
p.D94E
c.282C>A
1 paper
NM_032147.5
p.T91A
c.271A>G
1 paper
NM_032147.5
p.K160I
c.479A>T
1 paper
NM_032147.5
p.D83Y
c.247G>T
1 paper
NM_032147.5
p.W165*
c.494G>A
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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."