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.I23N

c.68T>A

Surrounding Variants

1 paper

NM_001033930.3

p.I23T

c.68T>C

1 paper

NM_001033930.3

p.I23M

c.69T>G

1 paper

NM_001033930.3

p.E24delFs

c.70delG

2 papers

NM_001033930.3

p.T22T

c.66C>G

1 paper

NM_001033930.3

p.T22T

c.66C>T

1 paper

NM_001033930.3

p.I23_E24delFs

c.67_70del4

2 papers

NM_001033930.3

p.E24*

c.70G>T

2 papers

NM_001033930.3

p.E24A

c.71A>C

2 papers

NM_001033930.3

p.T22N

c.65C>A

1 paper

NM_001033930.3

p.T22I

c.65C>T

1 paper

NM_001033930.3

p.E24D

c.72G>C

1 paper

NM_001033930.3

p.E24D

c.72G>T