Varaico: Literature-Extracted Genetic Variants

USP7

335 papers

RefSeq Summary

The protein encoded by this gene belongs to the peptidase C19 family, which includes ubiquitinyl hydrolases. This protein deubiquitinates target proteins such as p53 (a tumor suppressor protein) and W...

Pfam Domains

MATH_2aa 70–195UCSCMATH domain

UCHaa 214–518UCSCUbiquitin carboxyl-terminal hydrolase

USP7_ICP0_bdgaa 620–865UCSCICP0-binding domain of Ubiquitin-specific protease 7

USP7_C2aa 875–1086UCSCUbiquitin-specific protease C-terminal

Gene Aliases

HGNC Name

ubiquitin specific peptidase 7

HGNC Previous Symbol

HAUSP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003470.3

p.N163Y

c.487A>T

Surrounding Variants

1 paper

NM_003470.3

p.D164N

c.490G>A

4 papers

NM_003470.3

p.D164A

c.491A>C

1 paper

NM_003470.3

p.K161R

c.482A>G

1 paper

NM_003470.3

p.S168A

c.502T>G

1 paper

NM_003470.3

p.S168P

c.502T>C

1 paper

NM_003470.3

p.F150_L157delFs

c.449_470del22

1 paper

NM_003470.3

p.W173fs

c.517_518fs

1 paper

NM_003470.3

p.W173insFs

c.517dupT

1 paper

NM_003470.3

p.D145_D146delFs

c.434_437del4

1 paper

NM_003470.3

p.R144I

c.431G>T

1 paper

NM_003470.3

p.R144K

c.431G>A

4 papers

NM_003470.3

p.Y143*

c.429C>G