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

2 papers

NM_001110303.4

p.P367P

c.1101G>A

Surrounding Variants

2 papers

NM_001110303.4

p.R370W

c.1108C>T

1 paper

NM_001110303.4

p.A362A

c.1086G>A

1 paper

NM_001110303.4

p.R376Q

c.1127G>A

6 papers

NM_001110303.4

p.D358del1

c.1072_1074delGAC

1 paper

NM_001110303.4

p.E379Splc

c.1135+5C>T

1 paper

NM_001110303.4

p.S341L

c.1022C>T

1 paper

NM_001110303.4

p.R338C

c.1012C>T

1 paper

NM_001110303.4

p.S333A

c.997T>G

1 paper

NM_001110303.4

p.R330H

c.989G>A

1 paper

NM_001110303.4

p.A317A

c.951G>A

1 paper

NM_001110303.4

p.T309T

c.927G>A

1 paper

NM_001110303.4

p.S305S

c.915G>A