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

14 papers

NM_001033930.3

p.K33R

c.98A>G

Surrounding Variants

1 paper

NM_001033930.3

p.K33*

c.97A>T

1 paper

NM_001033930.3

p.K33K

c.99G>A

1 paper

NM_001033930.3

p.K33N

c.99G>C

1 paper

NM_001033930.3

p.K33N

c.99G>T

3 papers

NM_001033930.3

p.E34K

c.100G>A

1 paper

NM_001033930.3

p.E34Q

c.100G>C

3 papers

NM_001033930.3

p.D32A

c.95A>C

2 papers

NM_001033930.3

p.E34A

c.101A>C

5 papers

NM_001033930.3

p.D32G

c.95A>G

2 papers

NM_001033930.3

p.E34G

c.101A>G

1 paper

NM_001033930.3

p.D32V

c.95A>T

1 paper

NM_001033930.3

p.E34V

c.101A>T