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

6 papers

NM_001033930.3

p.S65A

c.193T>G

Surrounding Variants

4 papers

NM_001033930.3

p.S65T

c.193T>A

1 paper

NM_001033930.3

p.S65P

c.193T>C

1 paper

NM_001033930.3

p.E64V

c.191A>T

1 paper

NM_001033930.3

p.S65S

c.195C>G

1 paper

NM_001033930.3

p.T66ins5

c.196_197ins15

1 paper

NM_001033930.3

p.T66A

c.196A>G

3 papers

NM_001033930.3

p.E64Splc

c.191-1G>A

2 papers

NM_001033930.3

p.E64Splc

c.191-2A>G

1 paper

NM_001033930.3

p.T66T

c.198C>G

1 paper

NM_001033930.3

p.L67_V70del4

c.199_209del12

1 paper

NM_001033930.3

p.L67M

c.199C>A

1 paper

NM_001033930.3

p.L67P

c.200T>C