Varaico: Literature-Extracted Genetic Variants

Gene:KNG1
Variant:p.I581T
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KNG1

NM_001102416.3:p.I581T

Associated Papers

Identification of multiple novel procoagulant plasma ligands for stabilin-2.

Underwood M et al.

Journal of Thrombosis and Haemostasis : Jth, 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 › ST4_GWAS_Loci_BBJ_NCGG_ToMMo

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

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

Severe high-molecular-weight kininogen deficiency: clinical characteristics, deficiency-causing KNG1 variants, and estimated prevalence.

Adenaeuer A et al.

Journal of Thrombosis and Haemostasis : Jth, 2023

ABO O blood group as a risk factor for platelet reactivity in heparin-induced thrombocytopenia.

Karnes JH et al.

Blood, 2022

35377938 (PubMed )
Supplement: 10.1182-2021014240_bloodbld2021014240-suppl1.pdf

Multi-phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations.

Temprano-Sagrera G et al.

Journal of Thrombosis and Haemostasis : Jth, 2022

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

Cis-Segregation of c.1171C>T Stop Codon (p.R391*) in SERPINC1 Gene and c.1691G>A Transition (p.R506Q) in F5 Gene and Selected GWAS Multilocus Approach in Inherited Thrombophilia.

Gemmati D et al.

Genes, 2021

Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Pongor LS et al.

Scientific Reports, 2020

32873813 (PubMed )
Supplement: 41598_2020_71382_MOESM6_ESM.xlsx › Hypermutating

Hereditary angioedema cosegregating with a novel kininogen 1 gene mutation changing the N-terminal cleavage site of bradykinin.

Bork K et al.

Allergy, 2019

Genome-wide association study identifies genes associated with neuropathy in patients with head and neck cancer.

Reyes-Gibby CC et al.

Scientific Reports, 2018

What is currently known about the genetics of venous thromboembolism at the dawn of next generation sequencing technologies.

Trégouët DA et al.

British Journal of Haematology, 2018

Genetic factors in pediatric venous thromboembolism.

Rühle F et al.

Thrombosis Research, 2017

Genome-wide association study with additional genetic and post-transcriptional analyses reveals novel regulators of plasma factor XI levels.

Sennblad B et al.

Human Molecular Genetics, 2017

Next generation sequencing to dissect the genetic architecture of KNG1 and F11 loci using factor XI levels as an intermediate phenotype of thrombosis.

Martin-Fernandez L et al.

Plos One, 2017

Common genetic risk factors of venous thromboembolism in Western and Asian populations.

Huang SS et al.

Genetics and Molecular Research : Gmr, 2016

A Molecular Evolutionary Reference for the Human Variome.

Liu L et al.

Molecular Biology and Evolution, 2016

Gene-centric approach identifies new and known loci for FVIII activity and VWF antigen levels in European Americans and African Americans.

Tang W et al.

American Journal of Hematology, 2015

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

Multilocus genetic risk scores for venous thromboembolism risk assessment.

Soria JM et al.

Journal of the American Heart Association, 2014

A genome-wide association study identifies KNG1 as a genetic determinant of plasma factor XI Level and activated partial thromboplastin time.

Sabater-Lleal M et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2012

KNG1 Ile581Thr and susceptibility to venous thrombosis.

Morange PE et al.

Blood, 2011

Genetics of venous thrombosis: insights from a new genome wide association study.

Germain M et al.

Plos One, 2011

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

Cryptogenic Stroke in the Young: Role of Candidate Gene Polymorphisms in Indian Patients with Ischemic Etiology.

Salomi BSB et al.

Neurology India, 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."