Varaico: Literature-Extracted Genetic Variants

Gene:RPS27A
Variant:p.L50P

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
3 papers
NM_002954.6
p.L50P
c.149T>C
Surrounding Variants
1 paper
NM_002954.6
p.L50R
c.149T>G
1 paper
NM_002954.6
p.L50V
c.148C>G
1 paper
NM_002954.6
p.E51insFs
c.151_152insC
1 paper
NM_002954.6
p.E51*
c.151G>T
1 paper
NM_002954.6
p.E51A
c.152A>C
1 paper
NM_002954.6
p.E51V
c.152A>T
1 paper
NM_002954.6
p.Q49E
c.145C>G
1 paper
NM_002954.6
p.D52delFs
c.155delA
63 papers
NM_002954.6
p.K48R
c.143A>G
1 paper
NM_002954.6
p.D52G
c.155A>G
1 paper
NM_002954.6
p.K48M
c.143A>T
2 papers
NM_002954.6
p.K48E
c.142A>G
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