Varaico: Literature-Extracted Genetic Variants

Gene:RPS27A
Variant:p.R54L

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.R54L
c.161G>T
Surrounding Variants
1 paper
NM_002954.6
p.R54S
c.160C>A
3 papers
NM_002954.6
p.R54C
c.160C>T
1 paper
NM_002954.6
p.R54delFs
c.161delG
1 paper
NM_002954.6
p.R54_T55del1
c.161_163delGTA
1 paper
NM_002954.6
p.R54R
c.162T>A
6 papers
NM_002954.6
p.T55A
c.163A>G
1 paper
NM_002954.6
p.T55S
c.164C>G
2 papers
NM_002954.6
p.T55I
c.164C>T
1 paper
NM_002954.6
p.D52G
c.155A>G
1 paper
NM_002954.6
p.L56_Q62ins2
c.168_185dup18
1 paper
NM_002954.6
p.L56L
c.168G>A
1 paper
NM_002954.6
p.D52delFs
c.155delA
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