Varaico: Literature-Extracted Genetic Variants

Gene:USP53
Variant:p.Q530*

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.Q530*
c.1588C>T
Surrounding Variants
1 paper
NM_001371395.1
p.I532V
c.1594A>G
1 paper
NM_001371395.1
p.R526Q
c.1577G>A
10 papers
NM_001371395.1
p.R520*
c.1558C>T
1 paper
NM_001371395.1
p.V550G
c.1649T>G
1 paper
NM_001371395.1
p.Y508*
c.1524T>A
2 papers
NM_001371395.1
p.Y508*
c.1524T>G
1 paper
NM_001371395.1
p.N554S
c.1661A>G
1 paper
NM_001371395.1
p.N504Y
c.1510A>T
1 paper
NM_001371395.1
p.H502Y
c.1504C>T
1 paper
NM_001371395.1
p.Q501R
c.1502A>G
5 papers
NM_001371395.1
p.S563Fs
c.1687_1688delinsCFs
3 papers
NM_001371395.1
p.S563fs
c.1687_1688fs
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