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

16 papers

NM_001033930.3

p.K29R

c.86A>G

Surrounding Variants

1 paper

NM_001033930.3

p.I30L

c.88A>C

1 paper

NM_001033930.3

p.I30V

c.88A>G

1 paper

NM_001033930.3

p.A28G

c.83C>G

1 paper

NM_001033930.3

p.A28V

c.83C>T

3 papers

NM_001033930.3

p.I30_Q31insFs

c.90_91ins4

1 paper

NM_001033930.3

p.K27N

c.81A>C

1 paper

NM_001033930.3

p.K27N

c.81A>T

1 paper

NM_001033930.3

p.Q31K

c.91C>A

1 paper

NM_001033930.3

p.Q31*

c.91C>T

14 papers

NM_001033930.3

p.K27R

c.80A>G

1 paper

NM_001033930.3

p.Q31R

c.92A>G

1 paper

NM_001033930.3

p.K27*

c.79A>T