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.L69P

c.206T>C

Surrounding Variants

1 paper

NM_001033930.3

p.H68Q

c.204C>A

1 paper

NM_001033930.3

p.H68Q

c.204C>G

1 paper

NM_001033930.3

p.V70M

c.208G>A

1 paper

NM_001033930.3

p.V70E

c.209T>A

9 papers

NM_001033930.3

p.V70A

c.209T>C

1 paper

NM_001033930.3

p.V70G

c.209T>G

1 paper

NM_001033930.3

p.V70insFs

c.209_210insG

1 paper

NM_001033930.3

p.H68N

c.202C>A

1 paper

NM_001033930.3

p.H68insFs

c.202_203insT

1 paper

NM_001033930.3

p.L71*

c.212T>A

1 paper

NM_001033930.3

p.L67P

c.200T>C

1 paper

NM_001033930.3

p.L67R

c.200T>G