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.I78F

c.232A>T

Surrounding Variants

1 paper

NM_001033930.3

p.I77I

c.231T>A

1 paper

NM_001033930.3

p.I78N

c.233T>A

1 paper

NM_001033930.3

p.E79Q

c.235G>C

2 papers

NM_001033930.3

p.E79A

c.236A>C

1 paper

NM_001033930.3

p.E79G

c.236A>G

9 papers

NM_001033930.3

p.G76A

c.227G>C

12 papers

NM_001033930.3

p.G76V

c.227G>T

1 paper

NM_001033930.3

p.G76_I77delFs

c.228_229delCA

1 paper

NM_001033930.3

p.P80A

c.238C>G

1 paper

NM_001033930.3

p.P80_L82delFs

c.239_245del7

2 papers

NM_001033930.3

p.G76S

c.226G>A

12 papers

NM_001033930.3

p.G76C

c.226G>T