Varaico: Literature-Extracted Genetic Variants

Gene:RPS27A
Variant:p.L71*

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.L71*
c.212T>A
Surrounding Variants
1 paper
NM_002954.6
p.R72T
c.215G>C
1 paper
NM_002954.6
p.R72I
c.215G>T
1 paper
NM_002954.6
p.V70E
c.209T>A
8 papers
NM_002954.6
p.V70A
c.209T>C
1 paper
NM_002954.6
p.V70G
c.209T>G
1 paper
NM_002954.6
p.V70insFs
c.209_210insG
1 paper
NM_002954.6
p.R72S
c.216A>C
2 papers
NM_002954.6
p.R72S
c.216A>T
1 paper
NM_002954.6
p.V70M
c.208G>A
1 paper
NM_002954.6
p.L73F
c.217C>T
2 papers
NM_002954.6
p.L73H
c.218T>A
4 papers
NM_002954.6
p.L73P
c.218T>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."