Varaico: Literature-Extracted Genetic Variants

Gene:CYBRD1
Variant:p.S266N
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CYBRD1

NM_024843.4:p.S266N

Associated Papers

Mapping protein variants associated with Alzheimer's disease by mass-spectrometry based de novo sequencing assisted strategy.

Emekeeva DD et al.

Journal of Alzheimer's Disease : Jad, 2026

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Bateman NW et al.

Iscience, 2022

35036865 (PubMed )
Supplement: mmc2.xlsx › SupplementalTable1A

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Sebate B et al.

Plos One, 2021

33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8772__III-8__

Identification of MicroRNA-Related Tumorigenesis Variants and Genes in the Cancer Genome Atlas (TCGA) Data.

Li C et al.

Genes, 2020

32824926 (PubMed )
Supplement: genes-11-00953-s001.zip › Table_S1.xlsx › Sheet1

Integrated proteogenomic approach identifying a protein signature of COPD and a new splice variant of SORBS1.

Brandsma CA et al.

Thorax, 2020

31937552 (PubMed )
Supplement: thoraxjnl-2019-213200supp001.pdf

Duodenal cytochrome b (Cybrd1) ferric reductase functional studies in cells.

Schlottmann F et al.

Metallomics : Integrated Biometal Science, 2017

Uniparental disomy causes deficiencies of vitamin K-dependent proteins.

Dasi MA et al.

Journal of Thrombosis and Haemostasis : Jth, 2016

Identification of HPV integration and gene mutation in HeLa cell line by integrated analysis of RNA-Seq and MS/MS data.

Sun H et al.

Journal of Proteome Research, 2015

25698088 (PubMed )
Supplement: pr500944c_si_009.xlsx › SNV

A bioinformatics workflow for variant peptide detection in shotgun proteomics.

Li J et al.

Molecular & Cellular Proteomics : Mcp, 2011

Gene symbol: SLC40A1. Disease: primary iron overload.

Zaahl MG et al.

Human Genetics, 2005

Gene symbol: SLC40A1. Disease: Primary iron overload.

Zaahl MG et al.

Human Genetics, 2005

Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload.

Zaahl MG et al.

Human Genetics, 2004

A novel HFE mutation (c.del478) results in nonsense-mediated decay of the mutant transcript in a hemochromatosis patient.

Pointon JJ et al.

Blood Cells, Molecules & Diseases, 0

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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."