Varaico: Literature-Extracted Genetic Variants

Gene:HRG
Variant:p.P204S
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HRG

NM_000412.5:p.P204S

Associated Papers

Genome-wide association and linkage analysis of histidine-rich glycoprotein identifies common variants associated with plasma histidine-rich glycoprotein concentrations.

Underwood MI et al.

Research and Practice in Thrombosis and Haemostasis, 2025

Pharmacogenetic analysis using artificial intelligence (AI) to identify polymorphisms associated with sub-optimal ovarian response and hyper-response.

Ortiz JA et al.

Journal of Assisted Reproduction and Genetics, 2025

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST8_Missense_PPI___0.1

Genotype-dependent N-glycosylation and newly exposed O-glycosylation affect plasmin-induced cleavage of histidine-rich glycoprotein (HRG).

Zou Y et al.

The Journal of Biological Chemistry, 2024

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

Proteogenomic Features of the Highly Polymorphic Histidine-rich Glycoprotein Arose Late in Evolution.

Zou Y et al.

Molecular & Cellular Proteomics : Mcp, 2023

Unique insertion/deletion polymorphisms within histidine-rich region of histidine-rich glycoprotein in Thoroughbred horses.

Muko R et al.

Scientific Reports, 2023

A HRG novel mutation associated with idiopathic portal hypertension: Case report and literature review.

Tang S et al.

Iliver, 2022

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s005.xlsx › Sheet1

Investigation of discordant phenotype in mild Hemophilia A using whole exome sequencing.

Cygan PH et al.

Thrombosis Research, 2020

A genetic association study of activated partial thromboplastin time in European Americans and African Americans: the ARIC Study.

Weng LC et al.

Human Molecular Genetics, 2015

Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time.

Houlihan LM et al.

American Journal of Human Genetics, 2010

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
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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."