Varaico: Literature-Extracted Genetic Variants

Gene:RPS27A
Variant:p.L15P

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.L15P
c.44T>C
Surrounding Variants
1 paper
NM_002954.6
p.L15_E16insFs
c.45_46insT
1 paper
NM_002954.6
p.L15V
c.43C>G
1 paper
NM_002954.6
p.T14T
c.42C>A
1 paper
NM_002954.6
p.E16*
c.46G>T
1 paper
NM_002954.6
p.I13I
c.39C>A
1 paper
NM_002954.6
p.I13M
c.39C>G
4 papers
NM_002954.6
p.E16_V17Splc
c.48+1G>A
1 paper
NM_002954.6
p.I13N
c.38T>A
1 paper
NM_002954.6
p.I13insFs
c.38_39insG
1 paper
NM_002954.6
p.T12A
c.34A>G
1 paper
NM_002954.6
p.K11K
c.33G>A
22 papers
NM_002954.6
p.K11R
c.32A>G
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