Varaico: Literature-Extracted Genetic Variants

Gene:POP4
Variant:p.N15_D16insFs

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.N15_D16insFs
c.45_46insT
Surrounding Variants
1 paper
NM_006627.3
p.A14V
c.41C>T
1 paper
NM_006627.3
p.D16E
c.48C>A
1 paper
NM_006627.3
p.E13D
c.39G>C
1 paper
NM_006627.3
p.S17F
c.50C>T
1 paper
NM_006627.3
p.S17S
c.51C>T
1 paper
NM_006627.3
p.K12N
c.36A>C
1 paper
NM_006627.3
p.V19A
c.56T>C
1 paper
NM_006627.3
p.L9L
c.25T>C
1 paper
NM_006627.3
p.H7Y
c.19C>T
1 paper
NM_006627.3
p.Y6H
c.16T>C
1 paper
NM_006627.3
p.S22P
c.64T>C
1 paper
NM_006627.3
p.G23E
c.68G>A
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