Varaico: Literature-Extracted Genetic Variants

Gene:HRG
Variant:p.R448C
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HRG

NM_000412.5:p.R448C

Associated Papers

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC

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

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

Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction.

Lunghi B et al.

International Journal of Molecular Sciences, 2023

37762110 (PubMed )
Supplement: ijms-24-13809-s001.zip › Table_S2.xlsx › Foglio1

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

Zou Y et al.

Molecular & Cellular Proteomics : Mcp, 2023

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s007.pdf
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