Varaico: Literature-Extracted Genetic Variants

USP20

79 papers

RefSeq Summary

This gene encodes a ubiquitin specific processing protease that was first identified as a substrate of the VHL (von Hippel-Lindau disease) protein E3 ubiquitin ligase complex. In addition to being ubi...

Pfam Domains

zf-UBPaa 30–95UCSCZn-finger in ubiquitin-hydrolases and other protein

UCHaa 145–682UCSCUbiquitin carboxyl-terminal hydrolase

DUSPaa 707–780UCSCDUSP domain

DUSPaa 814–891UCSCDUSP domain

Gene Aliases

HGNC Name

ubiquitin specific peptidase 20

HGNC Alias Symbol

KIAA1003

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001110303.4

p.D59V

c.176A>T

Surrounding Variants

1 paper

NM_001110303.4

p.T73I

c.218C>T

1 paper

NM_001110303.4

p.A85T

c.253G>A

1 paper

NM_001110303.4

p.E87A

c.260A>C

1 paper

NM_001110303.4

p.A98G

c.293C>G

1 paper

NM_001110303.4

p.Q45_V46Splc

c.135+1G>C

1 paper

NM_001110303.4

p.T36T

c.108C>T

1 paper

NM_001110303.4

p.T29S

c.85A>T

1 paper

NM_001110303.4

p.P113L

c.338C>T

5 papers

NM_001110303.4

p.K120delFs

c.358delA

1 paper

NM_001110303.4

p.E135G

c.404A>G

1 paper

NM_001110303.4

p.M147I

c.441G>A

1 paper

NM_001110303.4

p.M147I

c.441G>C