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.K247R

c.740A>G

Surrounding Variants

1 paper

NM_001098536.2

p.T250A

c.748A>G

1 paper

NM_001098536.2

p.T252I

c.755C>T

1 paper

NM_001098536.2

p.R238Q

c.713G>A

1 paper

NM_001098536.2

p.Y223F

c.668A>T

1 paper

NM_001098536.2

p.R221*

c.661C>T

1 paper

NM_001098536.2

p.A168T

c.502G>A

1 paper

NM_001098536.2

p.K163R

c.488A>G

1 paper

NM_001098536.2

p.R146W

c.436C>T

1 paper

NM_001098536.2

p.R144I

c.431G>T

1 paper

NM_001098536.2

p.Y261F

c.782A>T

1 paper

NM_001098536.2

p.D264A

c.791A>C

1 paper

NM_001098536.2

p.D119G

c.356A>G