Varaico: Literature-Extracted Genetic Variants

Gene:PROC
Variant:p.R211W
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PROC

NM_000312.4:p.R211W

Associated Papers

Compound Heterozygous Protein C Deficiency Presenting With Splenic Infarction After COVID-19: A Case Report.

Imai S et al.

Cureus, 2026

Next-Generation Sequencing Identifies Novel Germline Mutations in Patients with Budd-Chiari Syndrome-Associated Hepatocellular Carcinoma.

Kumar S et al.

Digestive Diseases and Sciences, 2025

The clinical and genetic landscape of early-onset thrombophilia in Japan.

Egami N et al.

Pediatric Blood & Cancer, 2024

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.5

Stroke in a protein C-deficient infant after stem cell transplant for CHARGE syndrome.

Tanaka A et al.

Pediatric Blood & Cancer, 2023

Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients.

Suzuki Y et al.

Genes, 2023

36833371 (PubMed )
Supplement: genes-14-00443-s001.zip › genes-2152850-supplementary.xlsx › Table_S7

[Clinical phenotype and gene mutation analysis of 12 patients with hereditary protein C deficiency in different families].

Xu QY et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2022

Severe protein C deficiency in a newborn caused by a homozygous pathogenic variant in the PROC gene: a case report.

Song U et al.

Bmc Pediatrics, 2021

Recurrent PROC and novel PROS1 mutations in Vietnamese patients diagnosed with idiopathic deep venous thrombosis.

Do MD et al.

International Journal of Laboratory Hematology, 2021

The clinical presentation and genotype of protein C deficiency with double mutations of the protein C gene.

Inoue H et al.

Pediatric Blood & Cancer, 2017

Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population.

Kim HJ et al.

Haematologica, 2014

Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis.

Miyata T et al.

Thrombosis Research, 2009

Definite diagnosis in Japanese patients with protein C deficiency by identification of causative PROC mutations.

Takagi A et al.

International Journal of Hematology, 2009

Severe protein C deficiency from compound heterozygous mutations in the PROC gene in two Korean adult patients.

Kim HJ et al.

Thrombosis Research, 2008

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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."