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.H117Y

c.349C>T

Surrounding Variants

1 paper

NM_001033930.3

p.G116G

c.348T>A

1 paper

NM_001033930.3

p.H117Q

c.351C>A

1 paper

NM_001033930.3

p.H117Q

c.351C>G

1 paper

NM_001033930.3

p.G116S

c.346G>A

1 paper

NM_001033930.3

p.N119delFs

c.356delA

1 paper

NM_001033930.3

p.C115S

c.344G>C

2 papers

NM_001033930.3

p.C115S

c.343T>A

1 paper

NM_001033930.3

p.N119I

c.356A>T

2 papers

NM_001033930.3

p.K114K

c.342G>A

1 paper

NM_001033930.3

p.C115delFs

c.343delT

1 paper

NM_001033930.3

p.K114R

c.341A>G

1 paper

NM_001033930.3

p.N119K

c.357C>A