Varaico: Literature-Extracted Genetic Variants

Gene:USP27X
Variant:p.F240L

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
1 paper
NM_001145073.3
p.F240L
c.718T>C
Surrounding Variants
1 paper
NM_001145073.3
p.F240L
c.720C>A
1 paper
NM_001145073.3
p.F240L
c.720C>G
1 paper
NM_001145073.3
p.P245S
c.733C>T
1 paper
NM_001145073.3
p.L231fs
c.691_692fs
1 paper
NM_001145073.3
p.L231delFs
c.692delT
1 paper
NM_001145073.3
p.H217N
c.649C>A
1 paper
NM_001145073.3
p.K181N
c.543A>C
1 paper
NM_001145073.3
p.K181N
c.543A>T
2 papers
NM_001145073.3
p.K181E
c.541A>G
1 paper
NM_001145073.3
p.L302S
c.905T>C
1 paper
NM_001145073.3
p.F310_K311del2
c.928_932del6
1 paper
NM_001145073.3
p.K311E
c.931A>G
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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."