Varaico: Literature-Extracted Genetic Variants

Gene:RPS27A
Variant:p.E16_V17Splc

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.E16_V17Splc
c.49-1G>T
Surrounding Variants
1 paper
NM_002954.6
p.E16_V17Splc
c.49-1G>C
2 papers
NM_002954.6
p.E16_V17Splc
c.49-2A>G
1 paper
NM_002954.6
p.V17D
c.50T>A
1 paper
NM_002954.6
p.E18insFs
c.52_53ins8
38 papers
NM_002954.6
p.E18V
c.53A>T
1 paper
NM_002954.6
p.E18D
c.54A>C
2 papers
NM_002954.6
p.E18D
c.54A>T
1 paper
NM_002954.6
p.P19delFs
c.56delC
1 paper
NM_002954.6
p.P19R
c.56C>G
1 paper
NM_002954.6
p.S20_V26insFs
c.59_77dup19
2 papers
NM_002954.6
p.S20T
c.58T>A
1 paper
NM_002954.6
p.S20delFs
c.59delC
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