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

2 papers

NM_001033930.3

p.K124R

c.371A>G

Surrounding Variants

1 paper

NM_001033930.3

p.K124Q

c.370A>C

1 paper

NM_001033930.3

p.K124N

c.372G>C

1 paper

NM_001033930.3

p.P123P

c.369C>T

2 papers

NM_001033930.3

p.K125R

c.374A>G

2 papers

NM_001033930.3

p.P123H

c.368C>A

2 papers

NM_001033930.3

p.P123S

c.367C>T

1 paper

NM_001033930.3

p.P123del1

c.367_369delCCC

1 paper

NM_001033930.3

p.R122insFs

c.365_366insGT

1 paper

NM_001033930.3

p.R122S

c.364C>A

1 paper

NM_001033930.3

p.R122G

c.364C>G

1 paper

NM_001033930.3

p.L121_R122ins1

c.363_364insACA

1 paper

NM_001033930.3

p.V127F

c.379G>T