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.T12A

c.34A>G

Surrounding Variants

23 papers

NM_001033930.3

p.K11R

c.32A>G

2 papers

NM_001033930.3

p.K11I

c.32A>T

1 paper

NM_001033930.3

p.I13L

c.37A>C

1 paper

NM_001033930.3

p.K11E

c.31A>G

1 paper

NM_001033930.3

p.G10G

c.30C>T

1 paper

NM_001033930.3

p.I13N

c.38T>A

1 paper

NM_001033930.3

p.I13insFs

c.38_39insG

1 paper

NM_001033930.3

p.I13I

c.39C>A

1 paper

NM_001033930.3

p.I13M

c.39C>G

1 paper

NM_001033930.3

p.G10A

c.29G>C

1 paper

NM_001033930.3

p.T9N

c.26C>A

1 paper

NM_001033930.3

p.T14T

c.42C>A