Varaico: Literature-Extracted Genetic Variants

Gene:USP44
Variant:p.S706fs

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.S706fs
c.2116_2117fs
Surrounding Variants
1 paper
NM_032147.5
p.S706delFs
c.2116delA
1 paper
NM_032147.5
p.S712R
c.2134A>C
1 paper
NM_032147.5
p.S712R
c.2136C>G
1 paper
NM_032147.5
p.S712R
c.2136C>A
1 paper
NM_032147.5
p.Y675H
c.2023T>C
1 paper
NM_032147.5
p.D654Y
c.1960G>T
1 paper
NM_032147.5
p.Y637*
c.1911C>G
1 paper
NM_032147.5
p.Y637*
c.1911C>A
3 papers
NM_032147.5
p.P602S
c.1804C>T
1 paper
NM_032147.5
p.E596K
c.1786G>A
1 paper
NM_032147.5
p.N583fs
c.1747_1748fs
1 paper
NM_032147.5
p.R582fs
c.1744_1745fs
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