Varaico: Literature-Extracted Genetic Variants

Gene:RPS27A
Variant:p.R42K

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.R42K
c.125G>A
Surrounding Variants
1 paper
NM_002954.6
p.R42insFs
c.125dupG
1 paper
NM_002954.6
p.R42G
c.124A>G
2 papers
NM_002954.6
p.R42S
c.126A>T
1 paper
NM_002954.6
p.R42*
c.124A>T
1 paper
NM_002954.6
p.L43M
c.127C>A
1 paper
NM_002954.6
p.Q41R
c.122A>G
1 paper
NM_002954.6
p.L43Q
c.128T>A
1 paper
NM_002954.6
p.Q41K
c.121C>A
1 paper
NM_002954.6
p.I44V
c.130A>G
2 papers
NM_002954.6
p.Q40K
c.118C>A
1 paper
NM_002954.6
p.I44I
c.132C>A
1 paper
NM_002954.6
p.I44M
c.132C>G
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."