Varaico: Literature-Extracted Genetic Variants

Gene:USP53
Variant:p.C190Splc

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
6 papers
NM_001371395.1
p.C190Splc
c.569+2T>C
Surrounding Variants
1 paper
NM_001371395.1
p.P176S
c.526C>T
1 paper
NM_001371395.1
p.S172*
c.515C>A
1 paper
NM_001371395.1
p.S172*
c.515C>G
1 paper
NM_001371395.1
p.S171fs
c.511_512fs
5 papers
NM_001371395.1
p.A170delFs
c.510delA
1 paper
NM_001371395.1
p.Q162_C163Splc
c.486+1G>T
1 paper
NM_001371395.1
p.E161G
c.482A>G
1 paper
NM_001371395.1
p.Y160*
c.480T>A
1 paper
NM_001371395.1
p.Y160*
c.480T>G
3 papers
NM_001371395.1
p.L159fs
c.475_476fs
1 paper
NM_001371395.1
p.L159_Y160delFs
c.477_478delGT
1 paper
NM_001371395.1
p.T158S
c.473C>G
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