Varaico: Literature-Extracted Genetic Variants

Gene:USP53
Variant:p.G697R

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.G697R
c.2089G>C
Surrounding Variants
1 paper
NM_001371395.1
p.K647R
c.1940A>G
1 paper
NM_001371395.1
p.I641M
c.1923A>G
3 papers
NM_001371395.1
p.P617S
c.1849C>T
1 paper
NM_001371395.1
p.K616K
c.1848G>A
1 paper
NM_001371395.1
p.H609insFs
c.1826_1827dupAT
1 paper
NM_001371395.1
p.R582Q
c.1745G>A
6 papers
NM_001371395.1
p.R582*
c.1744C>T
1 paper
NM_001371395.1
p.S575N
c.1724G>A
5 papers
NM_001371395.1
p.S563Fs
c.1687_1688delinsCFs
3 papers
NM_001371395.1
p.S563fs
c.1687_1688fs
1 paper
NM_001371395.1
p.N554S
c.1661A>G
1 paper
NM_001371395.1
p.V550G
c.1649T>G
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