Varaico: Literature-Extracted Genetic Variants

Gene:PLG
Variant:p.Q207L
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PLG

NM_000301.5:p.Q207L

Associated Papers

Novel compound heterozygous mutations in plasminogen (p.Gly568Arg/p.Ala620Thr) impair protein structure and function in type II deficiency: mechanistic insights into a hereditary thrombogenic disorder.

Lu Y et al.

Orphanet Journal of Rare Diseases, 2025

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Plasminogen missense variants and their involvement in cardiovascular and inflammatory disease.

Brito-Robinson T et al.

Frontiers in Cardiovascular Medicine, 2024

Ligneous periodontitis exacerbated by Behçet's disease in a patient with plasminogen deficiency and a stop-gained variant PLG c.1468C > T: a case report.

Shinoda-Ito Y et al.

Bmc Oral Health, 2023

Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.

Huang YC et al.

Journal of Personalized Medicine, 2023

37763159 (PubMed )
Supplement: jpm-13-01392-s001.zip › Supplementary_Table_S3.xlsx › Variants

Screening for thrombophilia in patients with thromboangitis obliterans using whole-exome sequencing.

Chen F et al.

Thrombosis Research, 2023

Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Wang Z et al.

Genome Medicine, 2021

Plasminogen Tochigi mice exhibit phenotypes similar to wild-type mice under experimental thrombotic conditions.

Tashima Y et al.

Plos One, 2017

Asynchronous Bilateral Renal Infarction and Thrombophilia With Associated Gene Mutations in a 43-Year-Old Man: A Case Report.

Zhou XJ et al.

Medicine, 2016

Protein S K196E mutation, a genetic risk factor for venous thromboembolism, is limited to Japanese.

Liu W et al.

Thrombosis Research, 2013

Plasma protein S activity correlates with protein S genotype but is not sensitive to identify K196E mutant carriers.

Kimura R et al.

Journal of Thrombosis and Haemostasis : Jth, 2006

Genetic risk factors for deep vein thrombosis among Japanese: importance of protein S K196E mutation.

Miyata T et al.

International Journal of Hematology, 2006

Protein S-K196E mutation as a genetic risk factor for deep vein thrombosis in Japanese patients.

Kimura R et al.

Blood, 2006

Plasma transfusion combined with chelating therapy alleviates fulminant Wilson's disease with a single Arg778Leu heterozygote mutation.

Liu L et al.

Annals of Hepatology, 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."