Varaico: Literature-Extracted Genetic Variants

Gene:PROC
Variant:p.G324S
Back to variants list

PROC

NM_000312.4:p.G324S

Associated Papers

Polygenic risk scores for Crohn's disease risk prediction in a Chinese population: insights from multi-ethnic genome-wide association studies.

Guan L et al.

European Journal of Medical Research, 2026

41545884 (PubMed )
Supplement: 40001_2026_3838_MOESM1_ESM.xlsx › Table_S1

Analysis of PROC mutations and clinical features in 22 unrelated families with inherited protein C deficiency.

Xu F et al.

Annals of Hematology, 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

Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases.

Chen CB et al.

The Journal of Pediatrics, 2023

Compound heterozygous protein C deficiency with pulmonary embolism caused by a novel PROC gene mutation: Case report and literature review.

Zhang Z et al.

Medicine, 2022

Burden of rare exome sequence variants in PROC gene is associated with venous thromboembolism: a population-based study.

Tang W et al.

Journal of Thrombosis and Haemostasis : Jth, 2020

Clinical Manifestation and Mutation Spectrum of 53 Unrelated Pedigrees with Protein S Deficiency in China.

Li L et al.

Thrombosis and Haemostasis, 2019

Two novel compound heterozygous mutations associated with types I and II protein C deficiency with unusual phenotypes.

Deng MY et al.

Thrombosis Research, 2016

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

Normal ranges and genetic variants of antithrombin, protein C and protein S in the general Chinese population. Results of the Chinese Hemostasis Investigation on Natural Anticoagulants Study I Group.

Zhu T et al.

Haematologica, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."