Varaico: Literature-Extracted Genetic Variants

Gene:RPS27A
Variant:p.P88P

RPS27A

3,498 papers

RefSeq Summary

Ubiquitin, a highly conserved protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome, is synthesized as a precursor protein consisting of either polyubiquit...

Pfam Domains

ubiquitinaa 3–74UCSCUbiquitin family
Ribosomal_S27aa 102–150UCSCRibosomal protein S27a

Gene Aliases

HGNC Name

ribosomal protein S27a

HGNC Alias Symbols

UBCEP80; Uba80; S27A; eS31

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002954.6
p.P88P
c.264C>A
Surrounding Variants
1 paper
NM_002954.6
p.K89_K90del1
c.266_268delAGA
1 paper
NM_002954.6
p.P88R
c.263C>G
4 papers
NM_002954.6
p.K89R
c.266A>G
1 paper
NM_002954.6
p.K89N
c.267G>C
1 paper
NM_002954.6
p.K90fs
c.268_269fs
3 papers
NM_002954.6
p.K90_N91ins4
c.268_272ins12
1 paper
NM_002954.6
p.T87P
c.259A>C
1 paper
NM_002954.6
p.K90R
c.269A>G
2 papers
NM_002954.6
p.T87S
c.259A>T
1 paper
NM_002954.6
p.K90M
c.269A>T
1 paper
NM_002954.6
p.N91Y
c.271A>T
1 paper
NM_002954.6
p.T86S
c.257C>G
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