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

2 papers

NM_001033930.3

p.L73Q

c.218T>A

Surrounding Variants

4 papers

NM_001033930.3

p.L73P

c.218T>C

2 papers

NM_001033930.3

p.L73L

c.219G>A

1 paper

NM_001033930.3

p.R74*

c.220C>T

1 paper

NM_001033930.3

p.R74Q

c.221G>A

1 paper

NM_001033930.3

p.R72P

c.215G>C

2 papers

NM_001033930.3

p.R72L

c.215G>T

2 papers

NM_001033930.3

p.R72S

c.214C>A

3 papers

NM_001033930.3

p.G75S

c.223G>A

4 papers

NM_001033930.3

p.G75R

c.223G>C

1 paper

NM_001033930.3

p.G75C

c.223G>T

3 papers

NM_001033930.3

p.G75D

c.224G>A

3 papers

NM_001033930.3

p.G75A

c.224G>C