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.N90I

c.269A>T

Surrounding Variants

1 paper

NM_001033930.3

p.N90delFs

c.270delC

3 papers

NM_001033930.3

p.N90_C91ins4

c.268_272ins12

1 paper

NM_001033930.3

p.N90K

c.270C>A

1 paper

NM_001033930.3

p.Y89*

c.267C>A

4 papers

NM_001033930.3

p.C91S

c.271T>A

2 papers

NM_001033930.3

p.C91R

c.271T>C

2 papers

NM_001033930.3

p.Y89C

c.266A>G

3 papers

NM_001033930.3

p.C91S

c.272G>C

1 paper

NM_001033930.3

p.C91W

c.273C>G

1 paper

NM_001033930.3

p.Y89H

c.265T>C

1 paper

NM_001033930.3

p.Y89_N90del1

c.266_268delACA

4 papers

NM_001033930.3

p.D92N

c.274G>A