Varaico: Literature-Extracted Genetic Variants

Gene:RPS27A
Variant:p.M1I

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
7 papers
NM_002954.6
p.M1I
c.3G>A
Surrounding Variants
5 papers
NM_002954.6
p.M1I
c.3G>C
1 paper
NM_002954.6
p.Q2insFs
c.4_5insC
6 papers
NM_002954.6
p.M1I
c.3G>T
1 paper
NM_002954.6
p.Q2K
c.4C>A
1 paper
NM_002954.6
p.Q2E
c.4C>G
1 paper
NM_002954.6
p.Q2Fs
c.4delinsGTFs
1 paper
NM_002954.6
p.Q2*
c.4C>T
2 papers
NM_002954.6
p.M1K
c.2T>A
7 papers
NM_002954.6
p.M1T
c.2T>C
1 paper
NM_002954.6
p.M1R
c.2T>G
1 paper
NM_002954.6
p.M1insFs
c.2dupT
3 papers
NM_002954.6
p.M1L
c.1A>C
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