Varaico: Literature-Extracted Genetic Variants

Gene:RPS27A
Variant:p.H68Q

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.H68Q
c.204T>G
Surrounding Variants
1 paper
NM_002954.6
p.H68Q
c.204T>A
1 paper
NM_002954.6
p.H68insFs
c.202_203insT
2 papers
NM_002954.6
p.L69P
c.206T>C
2 papers
NM_002954.6
p.L67L
c.201T>A
1 paper
NM_002954.6
p.V70M
c.208G>A
1 paper
NM_002954.6
p.L67H
c.200T>A
1 paper
NM_002954.6
p.L67P
c.200T>C
1 paper
NM_002954.6
p.L67R
c.200T>G
1 paper
NM_002954.6
p.L67I
c.199C>A
1 paper
NM_002954.6
p.L67F
c.199C>T
1 paper
NM_002954.6
p.V70E
c.209T>A
8 papers
NM_002954.6
p.V70A
c.209T>C
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