Varaico: Literature-Extracted Genetic Variants

USP33

52 papers

RefSeq Summary

This gene encodes a deubiquinating enzyme important in a variety of processes, including Slit-dependent cell migration and beta-2 adrenergic receptor signaling. The protein is negatively regulated thr...

Pfam Domains

zf-UBPaa 61–126UCSCZn-finger in ubiquitin-hydrolases and other protein

UCHaa 185–712UCSCUbiquitin carboxyl-terminal hydrolase

DUSPaa 736–810UCSCDUSP domain

DUSPaa 844–920UCSCDUSP domain

Gene Aliases

HGNC Name

ubiquitin specific peptidase 33

HGNC Alias Symbols

KIAA1097; VDU1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_201624.3

p.P103A

c.307C>G

Surrounding Variants

1 paper

NM_201624.3

p.L72V

c.214C>G

1 paper

NM_201624.3

p.H60Y

c.178C>T

1 paper

NM_201624.3

p.L40F

c.118C>T

1 paper

NM_201624.3

p.P9S

c.25C>T

2 papers

NM_201624.3

p.C163S

c.487T>A

NM_015017.5

p.C194S

c.580T>A

2 papers

NM_201624.3

p.C163S

c.488G>C

NM_015017.5

p.C194S

c.581G>C

1 paper

NM_201624.3

p.L188V

c.562C>G

1 paper

NM_201624.3

p.R190*

c.568C>T