Varaico: Literature-Extracted Genetic Variants

Gene:RPS27A
Variant:p.R80T

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.R80T
c.239G>C
Surrounding Variants
1 paper
NM_002954.6
p.K79K
c.237A>G
1 paper
NM_002954.6
p.K81*
c.241A>T
2 papers
NM_002954.6
p.K81R
c.242A>G
1 paper
NM_002954.6
p.K79R
c.236A>G
1 paper
NM_002954.6
p.R80_K82delFs
c.239_245del7
1 paper
NM_002954.6
p.K79E
c.235A>G
1 paper
NM_002954.6
p.K81_K82insFs
c.243_244insA
1 paper
NM_002954.6
p.K82Q
c.244A>C
1 paper
NM_002954.6
p.K82E
c.244A>G
1 paper
NM_002954.6
p.K82R
c.245A>G
1 paper
NM_002954.6
p.K78E
c.232A>G
2 papers
NM_002954.6
p.K78*
c.232A>T
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