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.F4L

c.10T>C

Surrounding Variants

3 papers

NM_001033930.3

p.F4I

c.10T>A

1 paper

NM_001033930.3

p.F4_V5insC

c.10_14ins3

1 paper

NM_001033930.3

p.F4Y

c.11T>A

2 papers

NM_001033930.3

p.I3N

c.8T>A

2 papers

NM_001033930.3

p.F4L

c.12T>A

1 paper

NM_001033930.3

p.F4F

c.12T>C

2 papers

NM_001033930.3

p.F4L

c.12T>G

1 paper

NM_001033930.3

p.I3L

c.7A>C

1 paper

NM_001033930.3

p.I3F

c.7A>T

1 paper

NM_001033930.3

p.V5L

c.13G>C

1 paper

NM_001033930.3

p.V5delins

c.14delinsCCCT

1 paper

NM_001033930.3

p.V5L

c.13G>T