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.I36S

c.107T>G

Surrounding Variants

1 paper

NM_001033930.3

p.I36F

c.106A>T

1 paper

NM_001033930.3

p.I36I

c.108C>T

1 paper

NM_001033930.3

p.P37T

c.109C>A

1 paper

NM_001033930.3

p.P37A

c.109C>G

1 paper

NM_001033930.3

p.P37Q

c.110C>A

3 papers

NM_001033930.3

p.P37L

c.110C>T

1 paper

NM_001033930.3

p.P37P

c.111A>G

1 paper

NM_001033930.3

p.G35Splc

c.104-1G>C

1 paper

NM_001033930.3

p.G35Splc

c.104-1G>T

1 paper

NM_001033930.3

p.G35Splc

c.104-2A>G

1 paper

NM_001033930.3

p.P38H

c.113C>A

1 paper

NM_001033930.3

p.P38P

c.114T>C