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.S57A

c.169T>G

Surrounding Variants

3 papers

NM_001033930.3

p.S57S

c.171A>T

1 paper

NM_001033930.3

p.L56_Q62ins2

c.168_185dup18

1 paper

NM_001033930.3

p.L56V

c.166C>G

3 papers

NM_001033930.3

p.D58A

c.173A>C

1 paper

NM_001033930.3

p.T55S

c.164C>G

2 papers

NM_001033930.3

p.T55I

c.164C>T

7 papers

NM_001033930.3

p.T55A

c.163A>G

1 paper

NM_001033930.3

p.Y59N

c.175T>A

1 paper

NM_001033930.3

p.R54L

c.161G>T

1 paper

NM_001033930.3

p.N60_I61insAGC

c.178_182ins9

3 papers

NM_001033930.3

p.N60Y

c.178A>T

1 paper

NM_001033930.3

p.R54S

c.160C>A