Varaico: Literature-Extracted Genetic Variants

Gene:PROS1
Variant:p.P626L
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PROS1

NM_000313.4:p.P626L

Associated Papers

A thrombophilia family with protein S deficiency due to protein translation disorders caused by a Leu607Ser heterozygous mutation in PROS1.

Zhang YP et al.

Thrombosis Journal, 2021

[Recurrent deep vein thrombosis caused by heterozygous missense mutation of the protein S gene: genetic analysis of a case].

Ye X et al.

Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2011

Analysis three abnormal Protein S genes in a patient with pulmonary embolism.

Ikejiri M et al.

Thrombosis Research, 2010

Identification of protein Salpha gene mutations including four novel mutations in eight unrelated patients with protein S deficiency.

Okada H et al.

British Journal of Haematology, 2004

Superior mesenteric venous thrombosis associated with a familial missense mutation (Pro626Leu) in the SHBG-like domain of the protein S molecule.

Kato M et al.

International Journal of Hematology, 2002

Three-dimensional model of the SHBG-like region of anticoagulant protein S: new structure-function insights.

Villoutreix BO et al.

Proteins, 2001

Protein S secretion differences of missense mutants account for phenotypic heterogeneity.

Espinosa-Parrilla Y et al.

Blood, 2000

Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: identification of seven novel mutations and three novel, apparently neutral, variants.

Espinosa-Parrilla Y et al.

Human Mutation, 2000

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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."