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

10 papers

NM_001033930.3

p.R42P

c.125G>C

Surrounding Variants

3 papers

NM_001033930.3

p.R42H

c.125G>A

1 paper

NM_001033930.3

p.R42L

c.125G>T

1 paper

NM_001033930.3

p.R42S

c.124C>A

1 paper

NM_001033930.3

p.R42insFs

c.125dupG

1 paper

NM_001033930.3

p.R42G

c.124C>G

7 papers

NM_001033930.3

p.R42C

c.124C>T

1 paper

NM_001033930.3

p.L43M

c.127C>A

1 paper

NM_001033930.3

p.Q41Q

c.123G>A

1 paper

NM_001033930.3

p.Q41R

c.122A>G

1 paper

NM_001033930.3

p.L43Q

c.128T>A

1 paper

NM_001033930.3

p.Q41K

c.121C>A

2 papers

NM_001033930.3

p.I44V

c.130A>G