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.L8delFs

c.23delT

Surrounding Variants

2 papers

NM_001033930.3

p.L8I

c.22C>A

2 papers

NM_001033930.3

p.L8V

c.22C>G

2 papers

NM_001033930.3

p.L8F

c.22C>T

1 paper

NM_001033930.3

p.L8L

c.24C>A

1 paper

NM_001033930.3

p.T9A

c.25A>G

1 paper

NM_001033930.3

p.T7S

c.19A>T

1 paper

NM_001033930.3

p.T9N

c.26C>A

1 paper

NM_001033930.3

p.T9insFs

c.27dupT

1 paper

NM_001033930.3

p.K6K

c.18G>A

1 paper

NM_001033930.3

p.T7insFs

c.19dupA

20 papers

NM_001033930.3

p.K6R

c.17A>G

1 paper

NM_001033930.3

p.K6_E16delFs

c.18_48del31