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

1–12 of 406 variants

67 papers

NM_001033930.3

p.K48R

c.143A>G

38 papers

NM_001033930.3

p.E18V

c.53A>T

33 papers

NM_001033930.3

p.K63R

c.188A>G

23 papers

NM_001033930.3

p.K11R

c.32A>G

20 papers

NM_001033930.3

p.K6R

c.17A>G

16 papers

NM_001033930.3

p.K29R

c.86A>G

14 papers

NM_001033930.3

p.K27R

c.80A>G

14 papers

NM_001033930.3

p.K33R

c.98A>G

13 papers

NM_001033930.3

p.V26L

c.76G>C

12 papers

NM_001033930.3

p.G76C

c.226G>T

12 papers

NM_001033930.3

p.G76V

c.227G>T

10 papers

NM_001033930.3

p.R42P

c.125G>C