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

1–12 of 80 variants

7 papers

NM_001110303.4

p.I520S

c.1559T>G

6 papers

NM_001110303.4

p.D358del1

c.1072_1074delGAC

5 papers

NM_001110303.4

p.K120delFs

c.358delA

3 papers

NM_001110303.4

p.C154S

c.460T>A

3 papers

NM_001110303.4

p.C154S

c.461G>C

2 papers

NM_001110303.4

p.S277N

c.830G>A

2 papers

NM_001110303.4

p.P367P

c.1101G>A

2 papers

NM_001110303.4

p.R370W

c.1108C>T

2 papers

NM_001110303.4

p.R391C

c.1171C>T

1 paper

NM_001110303.4

p.D6insFs

c.17_18ins7

1 paper

NM_001110303.4

p.L23M

c.67C>A

1 paper

NM_001110303.4

p.T29S

c.85A>T