Varaico: Literature-Extracted Genetic Variants

Gene:USP44
Variant:p.L291fs

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.L291fs
c.871_872fs
Surrounding Variants
1 paper
NM_032147.5
p.L291_L295del0
c.873_884del12
2 papers
NM_032147.5
p.L291_I296Fs
c.873_886delinsTFs
1 paper
NM_032147.5
p.I296delFs
c.886delT
1 paper
NM_032147.5
p.C282S
c.845G>C
1 paper
NM_032147.5
p.C282S
c.844T>A
1 paper
NM_032147.5
p.G274R
c.820G>A
1 paper
NM_032147.5
p.V272I
c.814G>A
1 paper
NM_032147.5
p.S261*
c.782C>G
1 paper
NM_032147.5
p.S261*
c.782C>A
1 paper
NM_032147.5
p.Y332Y
c.996T>C
1 paper
NM_032147.5
p.Q333*
c.997C>T
1 paper
NM_032147.5
p.G343A
c.1028G>C
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