Varaico: Literature-Extracted Genetic Variants

Gene:USP53
Variant:p.K79del1

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.K79del1
c.235_237delAAG
Surrounding Variants
1 paper
NM_001371395.1
p.K79_T80Splc
c.237+1G>A
1 paper
NM_001371395.1
p.R58Q
c.173G>A
1 paper
NM_001371395.1
p.R57Q
c.170G>A
9 papers
NM_001371395.1
p.R57*
c.169C>T
2 papers
NM_001371395.1
p.V49F
c.145G>T
4 papers
NM_001371395.1
p.K79_T80Splc
c.238-1G>C
3 papers
NM_001371395.1
p.I81L
c.241A>C
3 papers
NM_001371395.1
p.I81L
c.241A>T
2 papers
NM_001371395.1
p.P94A
c.280C>G
1 paper
NM_001371395.1
p.S95L
c.284C>T
1 paper
NM_001371395.1
p.R99T
c.296G>C
5 papers
NM_001371395.1
p.R99S
c.297G>C
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