Varaico: Literature-Extracted Genetic Variants

Gene:POP4
Variant:p.S22P

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.S22P
c.64T>C
Surrounding Variants
1 paper
NM_006627.3
p.G23E
c.68G>A
1 paper
NM_006627.3
p.A27D
c.80C>A
1 paper
NM_006627.3
p.R32S
c.96G>C
1 paper
NM_006627.3
p.K36N
c.108G>C
1 paper
NM_006627.3
p.R37_S38ins5
c.111_112ins15
1 paper
NM_006627.3
p.S38S
c.114C>T
1 paper
NM_006627.3
p.Q45Q
c.135G>A
1 paper
NM_006627.3
p.D49delFs
c.145delG
1 paper
NM_006627.3
p.D49insFs
c.146dupA
1 paper
NM_006627.3
p.Q52H
c.156G>C
1 paper
NM_006627.3
p.L58L
c.172C>T
1 paper
NM_006627.3
p.E59D
c.177G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."