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.M223V

c.667A>G

Surrounding Variants

1 paper

NM_001110303.4

p.V220I

c.658G>A

1 paper

NM_001110303.4

p.S191R

c.573C>A

1 paper

NM_001110303.4

p.S191R

c.573C>G

1 paper

NM_001110303.4

p.S191R

c.571A>C

1 paper

NM_001110303.4

p.L188M

c.562C>A

1 paper

NM_001110303.4

p.G177D

c.530G>A

1 paper

NM_001110303.4

p.P168Q

c.503C>A

2 papers

NM_001110303.4

p.S277N

c.830G>A

1 paper

NM_001110303.4

p.D296D

c.888C>T

1 paper

NM_001110303.4

p.S305S

c.915G>A

1 paper

NM_001110303.4

p.T309T

c.927G>A

1 paper

NM_001110303.4

p.A317A

c.951G>A