Varaico: Literature-Extracted Genetic Variants

Gene:USP54
Variant:p.Q111E

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.Q111E
c.331C>G
Surrounding Variants
1 paper
NM_001391956.1
p.D143_I144ins3
c.429_430ins9
1 paper
NM_001391956.1
p.T146insFs
c.437_438ins19
1 paper
NM_001391956.1
p.T146ins3
c.436_437ins9
1 paper
NM_001391956.1
p.A147fs
c.439_440fs
1 paper
NM_001391956.1
p.A147_C150delFs
c.441_450del10
1 paper
NM_001391956.1
p.I195T
c.584T>C
1 paper
NM_001391956.1
p.R201*
c.601C>T
1 paper
NM_001391956.1
p.R201Q
c.602G>A
1 paper
NM_001391956.1
p.C229fs
c.685_686fs
1 paper
NM_001391956.1
p.V238ins3
c.713_714ins9
1 paper
NM_001391956.1
p.M240_N241ins3
c.720_721ins9
1 paper
NM_001391956.1
p.N241insFs
c.721_722ins19
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