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.Q49L

c.146A>T

Surrounding Variants

1 paper

NM_001033930.3

p.Q49E

c.145C>G

1 paper

NM_001033930.3

p.K48N

c.144A>T

1 paper

NM_001033930.3

p.L50V

c.148C>G

67 papers

NM_001033930.3

p.K48R

c.143A>G

3 papers

NM_001033930.3

p.K48I

c.143A>T

3 papers

NM_001033930.3

p.L50P

c.149T>C

1 paper

NM_001033930.3

p.L50R

c.149T>G

2 papers

NM_001033930.3

p.K48E

c.142A>G

1 paper

NM_001033930.3

p.E51insFs

c.151_152insC

1 paper

NM_001033930.3

p.E51*

c.151G>T

1 paper

NM_001033930.3

p.E51A

c.152A>C

1 paper

NM_001033930.3

p.E51V

c.152A>T