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

4 papers

NM_001033930.3

p.K98R

c.293A>G

Surrounding Variants

2 papers

NM_001033930.3

p.R97R

c.291C>A

2 papers

NM_001033930.3

p.R97H

c.290G>A

1 paper

NM_001033930.3

p.R97S

c.289C>A

2 papers

NM_001033930.3

p.R97G

c.289C>G

2 papers

NM_001033930.3

p.R97C

c.289C>T

1 paper

NM_001033930.3

p.C96C

c.288C>T

1 paper

NM_001033930.3

p.R97delFs

c.289_290delCG

3 papers

NM_001033930.3

p.C96Y

c.287G>A

1 paper

NM_001033930.3

p.C96R

c.286T>C

2 papers

NM_001033930.3

p.I95N

c.284T>A

1 paper

NM_001033930.3

p.C96_R97del2

c.286_290del6

1 paper

NM_001033930.3

p.I95F

c.283A>T