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.F45I

c.133T>A

Surrounding Variants

2 papers

NM_001033930.3

p.F45L

c.133T>C

1 paper

NM_001033930.3

p.F45V

c.133T>G

1 paper

NM_001033930.3

p.I44M

c.132A>G

2 papers

NM_001033930.3

p.F45Y

c.134T>A

1 paper

NM_001033930.3

p.F45S

c.134T>C

1 paper

NM_001033930.3

p.F45C

c.134T>G

1 paper

NM_001033930.3

p.F45_A46delFs

c.135_136delTG

2 papers

NM_001033930.3

p.F45L

c.135T>A

2 papers

NM_001033930.3

p.F45L

c.135T>G

1 paper

NM_001033930.3

p.A46_K48del0

c.136_144del9

2 papers

NM_001033930.3

p.I44V

c.130A>G

2 papers

NM_001033930.3

p.A46T

c.136G>A