Varaico: Literature-Extracted Genetic Variants

Gene:RPS27A
Variant:p.L100P

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
3 papers
NM_002954.6
p.L100P
c.299T>C
Surrounding Variants
2 papers
NM_002954.6
p.L100V
c.298C>G
1 paper
NM_002954.6
p.L100L
c.300G>T
1 paper
NM_002954.6
p.A101T
c.301G>A
2 papers
NM_002954.6
p.K99R
c.296A>G
1 paper
NM_002954.6
p.V102L
c.304G>C
2 papers
NM_002954.6
p.V102A
c.305T>C
1 paper
NM_002954.6
p.V98A
c.293T>C
1 paper
NM_002954.6
p.V98G
c.293T>G
1 paper
NM_002954.6
p.V102G
c.305T>G
1 paper
NM_002954.6
p.L103delFs
c.307_308delCT
2 papers
NM_002954.6
p.V98I
c.292G>A
1 paper
NM_002954.6
p.K97T
c.290A>C
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