Varaico: Literature-Extracted Genetic Variants

USP5

82 papers

RefSeq Summary

Ubiquitin (see MIM 191339)-dependent proteolysis is a complex pathway of protein metabolism implicated in such diverse cellular functions as maintenance of chromatin structure, receptor function, and ...

Pfam Domains

zf-UBP_varaa 16–79UCSCVariant UBP zinc finger

zf-UBPaa 199–272UCSCZn-finger in ubiquitin-hydrolases and other protein

UCHaa 326–853UCSCUbiquitin carboxyl-terminal hydrolase

UBAaa 655–692UCSCUBA/TS-N domain

UBAaa 723–759UCSCUBA/TS-N domain

Gene Aliases

HGNC Name

ubiquitin specific peptidase 5

HGNC Alias Symbol

IsoT

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001098536.2

p.K94R

c.281A>G

Surrounding Variants

1 paper

NM_001098536.2

p.P91P

c.273A>C

1 paper

NM_001098536.2

p.A100A

c.300T>A

1 paper

NM_001098536.2

p.K80R

c.239A>G

1 paper

NM_001098536.2

p.G106G

c.318A>G

1 paper

NM_001098536.2

p.E112A

c.335A>C

1 paper

NM_001098536.2

p.K113R

c.338A>G

1 paper

NM_001098536.2

p.D119G

c.356A>G

1 paper

NM_001098536.2

p.P79Q

c.236C>A

1 paper

NM_001098536.2

p.L73L

c.219C>A

1 paper

NM_001098536.2

p.R68R

c.202C>A

1 paper

NM_001098536.2

p.Q67K

c.199C>A

1 paper

NM_001098536.2

p.G66R

c.196G>C