Varaico: Literature-Extracted Genetic Variants

Gene:USP46
Variant:p.A133V

USP46

42 papers

RefSeq Summary

Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP46 belongs t...

Pfam Domains

UCHaa 35–362UCSCUbiquitin carboxyl-terminal hydrolase

Gene Aliases

HGNC Name

ubiquitin specific peptidase 46

HGNC Alias Symbol

FLJ12552

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_022832.4
p.A133V
c.398C>T
Surrounding Variants
1 paper
NM_022832.4
p.Q173R
c.518A>G
1 paper
NM_022832.4
p.T180I
c.539C>T
1 paper
NM_022832.4
p.E186K
c.556G>A
1 paper
NM_022832.4
p.P98L
c.293C>T
1 paper
NM_022832.4
p.K93delFs
c.279delC
1 paper
NM_022832.4
p.V94I
c.280G>A
1 paper
NM_022832.4
p.S86G
c.256A>G
1 paper
NM_022832.4
p.D82Y
c.244G>T
1 paper
NM_022832.4
p.Y66*
c.198C>G
1 paper
NM_022832.4
p.Y66*
c.198C>A
1 paper
NM_022832.4
p.R60W
c.178C>T
1 paper
NM_022832.4
p.P58Q
c.173C>A
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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."