Varaico: Literature-Extracted Genetic Variants

Gene:POP4
Variant:p.R79R

POP4

30 papers

RefSeq Summary

This gene encodes one of the protein subunits of the small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The enco...

Pfam Domains

RNase_P-MRP_p29aa 128–210UCSCRibonuclease P/MRP, subunit p29

Gene Aliases

HGNC Name

POP4 ribonuclease P/MRP subunit

HGNC Alias Symbol

RPP29

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006627.3
p.R79R
c.237G>A
Surrounding Variants
1 paper
NM_006627.3
p.R79fs
c.235_236fs
1 paper
NM_006627.3
p.R79delFs
c.236delG
1 paper
NM_006627.3
p.R81R
c.243G>A
1 paper
NM_006627.3
p.R82S
c.246G>C
1 paper
NM_006627.3
p.L84L
c.250C>T
1 paper
NM_006627.3
p.L86V
c.256C>G
2 papers
NM_006627.3
p.K72*
c.214A>T
1 paper
NM_006627.3
p.D88V
c.263A>T
1 paper
NM_006627.3
p.K67K
c.201G>A
1 paper
NM_006627.3
p.R66G
c.196C>G
1 paper
NM_006627.3
p.R66C
c.196C>T
1 paper
NM_006627.3
p.R63C
c.187C>T
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