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.R83insFs

c.249dupC

Surrounding Variants

3 papers

NM_001033930.3

p.R83H

c.248G>A

1 paper

NM_001033930.3

p.R83C

c.247C>T

1 paper

NM_001033930.3

p.R83R

c.249C>T

1 paper

NM_001033930.3

p.Q84K

c.250C>A

1 paper

NM_001033930.3

p.Q84*

c.250C>T

2 papers

NM_001033930.3

p.Q84R

c.251A>G

1 paper

NM_001033930.3

p.L82R

c.245T>G

1 paper

NM_001033930.3

p.Q84_L85insFs

c.252_253insC

1 paper

NM_001033930.3

p.L85V

c.253C>G

1 paper

NM_001033930.3

p.L85F

c.253C>T

1 paper

NM_001033930.3

p.S81_L82insFs

c.243_244insA

2 papers

NM_001033930.3

p.L85P

c.254T>C