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

3 papers

NM_201624.3

p.T272I

c.815C>T

Surrounding Variants

1 paper

NM_201624.3

p.K280Q

c.838A>C

1 paper

NM_201624.3

p.V260V

c.780C>T

1 paper

NM_201624.3

p.S294G

c.880A>G

1 paper

NM_201624.3

p.R246*

c.736C>T

1 paper

NM_201624.3

p.N325D

c.973A>G

1 paper

NM_201624.3

p.S356C

c.1067C>G

1 paper

NM_201624.3

p.H374L

c.1121A>T

1 paper

NM_201624.3

p.R190*

c.568C>T

1 paper

NM_201624.3

p.L188V

c.562C>G

1 paper

NM_201624.3

p.H423N

c.1267C>A

1 paper

NM_201624.3

p.S430P

c.1288T>C

1 paper

NM_201624.3

p.Q436fs

c.1306_1307fs