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.I444delFs

c.1330_1331delAT

Surrounding Variants

1 paper

NM_201624.3

p.I444fs

c.1330_1331fs

1 paper

NM_201624.3

p.Q436fs

c.1306_1307fs

1 paper

NM_201624.3

p.S430P

c.1288T>C

1 paper

NM_201624.3

p.V466insFs

c.1398dupA

1 paper

NM_201624.3

p.S475delFs

c.1423_1424delGA

1 paper

NM_201624.3

p.G480D

c.1439G>A

1 paper

NM_201624.3

p.S501P

c.1501T>C

1 paper

NM_201624.3

p.E504fs

c.1510_1511fs

1 paper

NM_201624.3

p.M516_E517delFs

c.1548_1549delCC

1 paper

NM_201624.3

p.S529I

c.1586G>T

1 paper

NM_201624.3

p.H423N

c.1267C>A

1 paper

NM_201624.3

p.G568V

c.1703G>T