Varaico: Literature-Extracted Genetic Variants

Gene:USP47
Variant:p.N449I

USP47

57 papers

Pfam Domains

Ubiquitin_USP47_Naa 41–140UCSCUbiquitin carboxyl-terminal hydrolase 47, ubiquitin-like domain
Ubiquitin_USP47_Naa 41–140UCSCUbiquitin carboxyl-terminal hydrolase 47, ubiquitin-like domain
UCHaa 188–561UCSCUbiquitin carboxyl-terminal hydrolase
USP47_Caa 1124–1363UCSCUbiquitin carboxyl-terminal hydrolase 47 C-terminal

Gene Aliases

HGNC Name

ubiquitin specific peptidase 47

HGNC Previous Names

Trf (TATA binding protein-related factor)-proximal homolog (Drosophila); ubiquitin specific protease 47

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001282659.2
p.N449I
c.1346A>T
Surrounding Variants
1 paper
NM_001282659.2
p.N449delFs
c.1347delT
1 paper
NM_001282659.2
p.S431C
c.1291A>T
1 paper
NM_001282659.2
p.M380T
c.1139T>C
1 paper
NM_001282659.2
p.L366L
c.1096C>T
1 paper
NM_001282659.2
p.P333P
c.999A>T
1 paper
NM_001282659.2
p.A529A
c.1587T>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."