Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.A436T
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SERPINC1

NM_000488.4:p.A436T

Associated Papers

De novo mutations in antithrombin deficiency: high frequency and heterogeneous mechanisms.

Garrido-Rodríguez P et al.

Haematologica, 2026

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut

Prediction of the pathogenicity of antithrombin sequence variations by in silico methods.

Luxembourg B et al.

Thrombosis Research, 2015

Sequence, phylogenetic and variant analyses of antithrombin III.

Kumar A et al.

Biochemical and Biophysical Research Communications, 2013

Mechanisms of serpin dysfunction in disease.

Kaiserman D et al.

Expert Reviews in Molecular Medicine, 2006

New insights into the structural basis of alpha 1-antitrypsin deficiency.

Lomas DA

Qjm : Monthly Journal of the Association of Physicians, 1996

C1 inhibitor hinge region mutations produce dysfunction by different mechanisms.

Davis AE et al.

Nature Genetics, 1992

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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."