Varaico: Literature-Extracted Genetic Variants

Gene:USP54
Variant:p.Q601K

USP54

67 papers

Pfam Domains

UCHaa 31–349UCSCUbiquitin carboxyl-terminal hydrolase

Gene Aliases

HGNC Name

ubiquitin specific peptidase 54

HGNC Previous Symbol

C10orf29

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001391956.1
p.Q601K
c.1801C>A
Surrounding Variants
1 paper
NM_001391956.1
p.P574L
c.1721C>T
1 paper
NM_001391956.1
p.E563Fs
c.1687_1688delinsCFs
1 paper
NM_001391956.1
p.E556D
c.1668A>T
1 paper
NM_001391956.1
p.P520S
c.1558C>T
1 paper
NM_001391956.1
p.G630*
c.1888G>T
2 papers
NM_001391956.1
p.R642W
c.1924C>T
1 paper
NM_001391956.1
p.R642Q
c.1925G>A
1 paper
NM_001391956.1
p.P672S
c.2014C>T
1 paper
NM_001391956.1
p.E473K
c.1417G>A
1 paper
NM_001391956.1
p.R462M
c.1385G>T
1 paper
NM_001391956.1
p.L441_H450del10
c.1321_1349del30
1 paper
NM_001391956.1
p.D443D
c.1329T>C
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