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.V794F

c.2380G>T

Surrounding Variants

1 paper

NM_001098536.2

p.K793E

c.2377A>G

1 paper

NM_001098536.2

p.S783A

c.2347T>G

1 paper

NM_001098536.2

p.S775L

c.2324C>T

1 paper

NM_001098536.2

p.M815R

c.2444T>G

1 paper

NM_001098536.2

p.K824R

c.2471A>G

1 paper

NM_001098536.2

p.P699P

c.2097A>T

1 paper

NM_001098536.2

p.M696L

c.2086A>C

1 paper

NM_001098536.2

p.M696L

c.2086A>T

1 paper

NM_001098536.2

p.A687D

c.2060C>A

1 paper

NM_001098536.2

p.E657K

c.1969G>A

1 paper

NM_001098536.2

p.P843L

c.2528C>T

1 paper

NM_001098536.2

p.P650L

c.1949C>T