Varaico: Literature-Extracted Genetic Variants

Gene:RPS27A
Variant:p.I30_Q31insFs

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.I30_Q31insFs
c.90_91ins4
Surrounding Variants
1 paper
NM_002954.6
p.I30V
c.88A>G
1 paper
NM_002954.6
p.I30M
c.90C>G
2 papers
NM_002954.6
p.I30I
c.90C>T
1 paper
NM_002954.6
p.Q31K
c.91C>A
1 paper
NM_002954.6
p.Q31*
c.91C>T
1 paper
NM_002954.6
p.K29K
c.87G>A
1 paper
NM_002954.6
p.K29N
c.87G>C
1 paper
NM_002954.6
p.K29N
c.87G>T
15 papers
NM_002954.6
p.K29R
c.86A>G
1 paper
NM_002954.6
p.Q31R
c.92A>G
16 papers
NM_002954.6
p.Q31Q
c.93G>A
2 papers
NM_002954.6
p.D32N
c.94G>A
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