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.R111S

c.331C>A

Surrounding Variants

1 paper

NM_001033930.3

p.C110*

c.330C>A

2 papers

NM_001033930.3

p.C110C

c.330C>T

2 papers

NM_001033930.3

p.C110Y

c.329G>A

1 paper

NM_001033930.3

p.C110S

c.328T>A

1 paper

NM_001033930.3

p.K112R

c.335A>G

1 paper

NM_001033930.3

p.N109N

c.327C>T

2 papers

NM_001033930.3

p.K113R

c.338A>G

1 paper

NM_001033930.3

p.V108D

c.323T>A

3 papers

NM_001033930.3

p.K114*

c.340A>T

1 paper

NM_001033930.3

p.V108L

c.322G>C

3 papers

NM_001033930.3

p.V108insFs

c.322_323insGT

1 paper

NM_001033930.3

p.K114R

c.341A>G