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.P19delFs

c.56delC

Surrounding Variants

1 paper

NM_001033930.3

p.E18D

c.54G>C

1 paper

NM_001033930.3

p.E18D

c.54G>T

38 papers

NM_001033930.3

p.E18V

c.53A>T

1 paper

NM_001033930.3

p.P19R

c.56C>G

1 paper

NM_001033930.3

p.E18insFs

c.52_53ins8

1 paper

NM_001033930.3

p.S20_V26insFs

c.59_77dup19

1 paper

NM_001033930.3

p.V17D

c.50T>A

1 paper

NM_001033930.3

p.S20N

c.59G>A

1 paper

NM_001033930.3

p.V17L

c.49G>C

1 paper

NM_001033930.3

p.E16D

c.48G>C

1 paper

NM_001033930.3

p.E16D

c.48G>T

1 paper

NM_001033930.3

p.S20_D21ins1

c.60_61insAGC