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.P566T

c.1696C>A

Surrounding Variants

1 paper

NM_001098536.2

p.S564A

c.1690T>G

1 paper

NM_001098536.2

p.V570F

c.1708G>T

1 paper

NM_001098536.2

p.R561Q

c.1682G>A

1 paper

NM_001098536.2

p.K574R

c.1721A>G

1 paper

NM_001098536.2

p.T577A

c.1729A>G

1 paper

NM_001098536.2

p.L602F

c.1806G>C

1 paper

NM_001098536.2

p.L602F

c.1806G>T

1 paper

NM_001098536.2

p.E613K

c.1837G>A

1 paper

NM_001098536.2

p.P624L

c.1871C>T

1 paper

NM_001098536.2

p.E639K

c.1915G>A

1 paper

NM_001098536.2

p.P650L

c.1949C>T

1 paper

NM_001098536.2

p.S531F

c.1592C>T