Varaico: Literature-Extracted Genetic Variants

Gene:RPS27A
Variant:p.D21H

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
2 papers
NM_002954.6
p.D21H
c.61G>C
Surrounding Variants
2 papers
NM_002954.6
p.D21N
c.61G>A
3 papers
NM_002954.6
p.D21A
c.62A>C
1 paper
NM_002954.6
p.S20_D21ins1
c.60_61insAGC
2 papers
NM_002954.6
p.D21E
c.63T>A
1 paper
NM_002954.6
p.D21E
c.63T>G
2 papers
NM_002954.6
p.S20T
c.58T>A
1 paper
NM_002954.6
p.S20delFs
c.59delC
1 paper
NM_002954.6
p.T22K
c.65C>A
1 paper
NM_002954.6
p.S20_V26insFs
c.59_77dup19
1 paper
NM_002954.6
p.I23_E24delFs
c.67_70del4
1 paper
NM_002954.6
p.P19R
c.56C>G
1 paper
NM_002954.6
p.E18D
c.54A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."