Varaico: Literature-Extracted Genetic Variants

Gene:USP27X
Variant:p.E132*

USP27X

31 papers

RefSeq Summary

This gene encodes a member of the peptidase protein family. The encoded protein functions as a deubiquitinase that is involved in upregulation of the pro-apoptotic Bim protein. This protein may act as...

Pfam Domains

UCHaa 78–418UCSCUbiquitin carboxyl-terminal hydrolase

Gene Aliases

HGNC Name

ubiquitin specific peptidase 27 X-linked

HGNC Alias Symbol

USP27

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001145073.3
p.E132*
c.394G>T
Surrounding Variants
1 paper
NM_001145073.3
p.C124W
c.372T>G
2 papers
NM_001145073.3
p.Y144C
c.431A>G
1 paper
NM_001145073.3
p.R112Q
c.335G>A
1 paper
NM_001145073.3
p.F105S
c.314T>C
1 paper
NM_001145073.3
p.D104fs
c.310_311fs
1 paper
NM_001145073.3
p.D104delFs
c.310_311delGA
1 paper
NM_001145073.3
p.T97N
c.290C>A
1 paper
NM_001145073.3
p.C87S
c.260G>C
1 paper
NM_001145073.3
p.C87S
c.259T>A
2 papers
NM_001145073.3
p.T86M
c.257C>T
2 papers
NM_001145073.3
p.K181E
c.541A>G
1 paper
NM_001145073.3
p.K181N
c.543A>C
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