Varaico: Literature-Extracted Genetic Variants

Gene:RPS27A
Variant:p.T7S

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.T7S
c.19A>T
Surrounding Variants
1 paper
NM_002954.6
p.K6N
c.18A>T
17 papers
NM_002954.6
p.K6R
c.17A>G
1 paper
NM_002954.6
p.K6_E16delFs
c.18_48del31
1 paper
NM_002954.6
p.K6Q
c.16A>C
1 paper
NM_002954.6
p.K6E
c.16A>G
2 papers
NM_002954.6
p.L8I
c.22C>A
2 papers
NM_002954.6
p.L8V
c.22C>G
2 papers
NM_002954.6
p.L8F
c.22C>T
1 paper
NM_002954.6
p.L8delFs
c.23delT
2 papers
NM_002954.6
p.V5V
c.15G>A
1 paper
NM_002954.6
p.T7insFs
c.19dupA
1 paper
NM_002954.6
p.K6del1
c.16_18delAAA
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