Varaico: Literature-Extracted Genetic Variants

Gene:USP54
Variant:p.Y317delFs

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.Y317delFs
c.951delA
Surrounding Variants
1 paper
NM_001391956.1
p.R284W
c.850C>T
1 paper
NM_001391956.1
p.F277_F278insFs
c.831_832insAG
1 paper
NM_001391956.1
p.A242V
c.725C>T
1 paper
NM_001391956.1
p.N241insFs
c.721_722ins19
1 paper
NM_001391956.1
p.M240_N241ins3
c.720_721ins9
1 paper
NM_001391956.1
p.V238ins3
c.713_714ins9
1 paper
NM_001391956.1
p.C229fs
c.685_686fs
1 paper
NM_001391956.1
p.R201Q
c.602G>A
1 paper
NM_001391956.1
p.R201*
c.601C>T
1 paper
NM_001391956.1
p.I195T
c.584T>C
1 paper
NM_001391956.1
p.K339_Q353delFs
c.1017_1057del41
1 paper
NM_001391956.1
p.D380ins3
c.1138_1139ins9
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