Varaico: Literature-Extracted Genetic Variants

Gene:RPS27A
Variant:p.E24A

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.E24A
c.71A>C
Surrounding Variants
2 papers
NM_002954.6
p.E24*
c.70G>T
1 paper
NM_002954.6
p.I23M
c.69A>G
1 paper
NM_002954.6
p.E24delFs
c.70delG
1 paper
NM_002954.6
p.I23T
c.68T>C
1 paper
NM_002954.6
p.N25N
c.75T>C
8 papers
NM_002954.6
p.V26I
c.76G>A
11 papers
NM_002954.6
p.V26L
c.76G>C
2 papers
NM_002954.6
p.V26L
c.76G>T
1 paper
NM_002954.6
p.T22K
c.65C>A
1 paper
NM_002954.6
p.I23_E24delFs
c.67_70del4
1 paper
NM_002954.6
p.V26A
c.77T>C
1 paper
NM_002954.6
p.K27*
c.79A>T
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