Varaico: Literature-Extracted Genetic Variants

Gene:USP53
Variant:p.F316L

USP53

90 papers

Pfam Domains

UCHaa 31–348UCSCUbiquitin carboxyl-terminal hydrolase

Gene Aliases

HGNC Name

ubiquitin specific peptidase 53

HGNC Alias Symbol

KIAA1350

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001371395.1
p.F316L
c.946T>C
Surrounding Variants
16 papers
NM_001371395.1
p.F317delFs
c.951delT
1 paper
NM_001371395.1
p.F316L
c.948T>A
1 paper
NM_001371395.1
p.F316L
c.948T>G
7 papers
NM_001371395.1
p.F317fs
c.949_950fs
8 papers
NM_001371395.1
p.F317fs
c.949_950fs
1 paper
NM_001371395.1
p.V322E
c.965T>A
1 paper
NM_001371395.1
p.E324_I325Splc
c.972+1G>A
2 papers
NM_001371395.1
p.C303Y
c.908G>A
7 papers
NM_001371395.1
p.G293V
c.878G>T
1 paper
NM_001371395.1
p.V279fs
c.835_836fs
5 papers
NM_001371395.1
p.Y277_R278insFs
c.831_832insAG
2 papers
NM_001371395.1
p.Y277insFs
c.829dupT
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