Varaico: Literature-Extracted Genetic Variants

Gene:USP44
Variant:p.S475_Q476delFs

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
2 papers
NM_032147.5
p.S475_Q476delFs
c.1425_1428del4
Surrounding Variants
1 paper
NM_032147.5
p.Q476*
c.1426C>T
1 paper
NM_032147.5
p.S475fs
c.1423_1424fs
1 paper
NM_032147.5
p.R437H
c.1310G>A
1 paper
NM_032147.5
p.Q421*
c.1261C>T
1 paper
NM_032147.5
p.R417H
c.1250G>A
1 paper
NM_032147.5
p.R364T
c.1091G>C
1 paper
NM_032147.5
p.S351T
c.1052G>C
1 paper
NM_032147.5
p.G343A
c.1028G>C
1 paper
NM_032147.5
p.Q333*
c.997C>T
1 paper
NM_032147.5
p.Y332Y
c.996T>C
1 paper
NM_032147.5
p.I296delFs
c.886delT
2 papers
NM_032147.5
p.L291_I296Fs
c.873_886delinsTFs
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