Varaico: Literature-Extracted Genetic Variants

Gene:USP27X
Variant:p.F313V

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
3 papers
NM_001145073.3
p.F313V
c.937T>G
Surrounding Variants
1 paper
NM_001145073.3
p.K311E
c.931A>G
1 paper
NM_001145073.3
p.F310_K311del2
c.928_932del6
1 paper
NM_001145073.3
p.L302S
c.905T>C
1 paper
NM_001145073.3
p.T336M
c.1007C>T
1 paper
NM_001145073.3
p.S342_E344delFs
c.1026_1030del5
2 papers
NM_001145073.3
p.S342fs
c.1024_1025fs
1 paper
NM_001145073.3
p.S345C
c.1033A>T
2 papers
NM_001145073.3
p.M347V
c.1039A>G
1 paper
NM_001145073.3
p.N362S
c.1085A>G
1 paper
NM_001145073.3
p.P245S
c.733C>T
4 papers
NM_001145073.3
p.Y381H
c.1141T>C
1 paper
NM_001145073.3
p.Y381C
c.1142A>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."