Varaico: Literature-Extracted Genetic Variants

UBA52

3,337 papers

RefSeq Summary

Ubiquitin is a highly conserved nuclear and cytoplasmic protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome. It is also involved in the maintenance of ch...

Pfam Domains

ubiquitinaa 3–74UCSCUbiquitin family

Ribosomal_L40eaa 78–127UCSCRibosomal L40e family

Gene Aliases

HGNC Name

ubiquitin A-52 residue ribosomal protein fusion product 1

HGNC Alias Symbols

RPL40; CEP52; HUBCEP52; MGC57125; MGC126879; MGC126881; L40

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001033930.3

p.R102S

c.304C>A

Surrounding Variants

1 paper

NM_001033930.3

p.R102G

c.304C>G

1 paper

NM_001033930.3

p.R102L

c.305G>T

1 paper

NM_001033930.3

p.L103delFs

c.307_308delCT

1 paper

NM_001033930.3

p.A101T

c.301G>A

3 papers

NM_001033930.3

p.L103L

c.309T>G

1 paper

NM_001033930.3

p.H104D

c.310C>G

1 paper

NM_001033930.3

p.Y100D

c.298T>G

1 paper

NM_001033930.3

p.H104H

c.312C>T

1 paper

NM_001033930.3

p.C99F

c.296G>T

1 paper

NM_001033930.3

p.P105A

c.313C>G

1 paper

NM_001033930.3

p.C99R

c.295T>C

1 paper

NM_001033930.3

p.P105H

c.314C>A