Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.V290M
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PPOX

NM_001122764.3:p.V290M

Associated Papers

Interaction Proteomics of Polycystins 1 and 2 Reveal a Novel Role for the BLOC-1/BORC Lysosomal Positioning Complex.

Lukmani F et al.

Molecular & Cellular Proteomics : Mcp, 2025

41086943 (PubMed )
Supplement: mmc2.xlsx › Table_7c_human_MitoCarta3.0

Beyond MitoCarta-expanding the list of candidate proteins involved in mitochondrial functions using a biological network approach.

Leyfer D et al.

Nar Genomics and Bioinformatics, 2023

39314263 (PubMed )
Supplement: lqad107_Supplemental_Files.zip › MitoProximal_Datasets_Leyfer_Fetterman_2023.10.20.xlsx › 3._Overlap

DUX4-r exerts a neomorphic activity that depends on GTF2I in acute lymphoblastic leukemia.

Campolungo D et al.

Science Advances, 2023

37713484 (PubMed )
Supplement: sciadv.adi3771_tables_s1_to_s6.zip › adi3771_Table_S3.xlsx › 3_DUX4-del50_peaks

Nuclear stabilization of p53 requires a functional nucleolar surveillance pathway.

Hannan KM et al.

Cell Reports, 2022

36323262 (PubMed )
Supplement: mmc7.xlsx › Table_S6_All_Data

The psychiatric risk gene BRD1 modulates mitochondrial bioenergetics by transcriptional regulation.

Paternoster V et al.

Translational Psychiatry, 2022

35941107 (PubMed )
Supplement: 41398_2022_2053_MOESM2_ESM.xlsx › MitoCarta_3.0

Histone methyltransferase Dot1L recruits O-GlcNAc transferase to target chromatin sites to regulate histone O-GlcNAcylation.

Xu B et al.

The Journal of Biological Chemistry, 2022

35690146 (PubMed )
Supplement: mmc2.xlsx › Tables_S2B

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.

Konrad EDH et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

31239556 (PubMed )
Supplement: 41436_2019_585_MOESM3_ESM.xlsx › SysID_ID_gene_list_06112018

Identification of the PTEN-ARID4B-PI3K pathway reveals the dependency on ARID4B by PTEN-deficient prostate cancer.

Wu RC et al.

Nature Communications, 2019

31551414 (PubMed )
Supplement: 41467_2019_12184_MOESM5_ESM.xlsx › Genes

The lncRNA SLNCR Recruits the Androgen Receptor to EGR1-Bound Genes in Melanoma and Inhibits Expression of Tumor Suppressor p21.

Schmidt K et al.

Cell Reports, 2019

31116991 (PubMed )
Supplement: NIHMS1530019-supplement-3.xlsx › ActGenes

NF90/ILF3 is a transcription factor that promotes proliferation over differentiation by hierarchical regulation in K562 erythroleukemia cells.

Wu TH et al.

Plos One, 2018

29590119 (PubMed )
Supplement: pone.0193126.s001.xlsx › NF90_NF110_TTS

Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.

Ferreira MA et al.

Nature Genetics, 2017

29083406 (PubMed )
Supplement: NIHMS74439-supplement-Supplementary_tables.xlsx › ST15

Lessons from ten years of genome-wide association studies of asthma.

Vicente CT et al.

Clinical & Translational Immunology, 2017

29333270 (PubMed )
Supplement: cti201754x1.zip › CTI-17-REV-0041V1-s01.xls › Supplementary_Table_9

Mapping gene associations in human mitochondria using clinical disease phenotypes.

Scharfe C et al.

Plos Computational Biology, 2009

19390613 (PubMed )
Supplement: pcbi.1000374.s004.xls › TableS1

Dissection of a QTL hotspot on mouse distal chromosome 1 that modulates neurobehavioral phenotypes and gene expression.

Mozhui K et al.

Plos Genetics, 2008

19008955 (PubMed )
Supplement: pgen.1000260.s003.xls › cis-QTLs

Crystal structure of protoporphyrinogen oxidase from Myxococcus xanthus and its complex with the inhibitor acifluorfen.

Corradi HR et al.

The Journal of Biological Chemistry, 2006

Kinetic and physical characterisation of recombinant wild-type and mutant human protoporphyrinogen oxidases.

Maneli MH et al.

Biochimica Et Biophysica Acta, 2003

Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria.

Corrigall AV et al.

Molecular Genetics and Metabolism, 2001

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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."