Varaico: Literature-Extracted Genetic Variants

Gene:RPS27A
Variant:p.E64V

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.E64V
c.191A>T
Surrounding Variants
1 paper
NM_002954.6
p.E64A
c.191A>C
3 papers
NM_002954.6
p.E64G
c.191A>G
1 paper
NM_002954.6
p.E64D
c.192G>C
1 paper
NM_002954.6
p.E64fs
c.190_191fs
1 paper
NM_002954.6
p.E64D
c.192G>T
1 paper
NM_002954.6
p.K63_E64Splc
c.190-1G>A
4 papers
NM_002954.6
p.S65T
c.193T>A
1 paper
NM_002954.6
p.S65P
c.193T>C
6 papers
NM_002954.6
p.S65A
c.193T>G
1 paper
NM_002954.6
p.K63_E64Splc
c.190-2A>G
1 paper
NM_002954.6
p.K63_E64Splc
c.190-3C>A
1 paper
NM_002954.6
p.T66ins5
c.196_197ins15
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