Varaico: Literature-Extracted Genetic Variants

Gene:CASP1
Variant:p.A329T
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CASP1

NM_001257118.3:p.A329T

Associated Papers

Somatic Mutation Profiling and Therapeutic Landscape of Breast Cancer in the MENA Region.

Velayutham D et al.

Cells, 2025

41294844 (PubMed )
Supplement: cells-14-01791-s001.zip › cells-3910392-supplementary › Table_S2.xlsx › Table_S3

Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.

Adamson AW et al.

Journal of Ovarian Research, 2023

37460928 (PubMed )
Supplement: 13048_2023_1234_MOESM2_ESM.xlsx › Table_S10__

Non-canonical Caspase-1 Signaling Drives RIP2-Dependent and TNF-α-Mediated Inflammation In Vivo.

Reinke S et al.

Cell Reports, 2020

Copy number signatures and mutational processes in ovarian carcinoma.

Macintyre G et al.

Nature Genetics, 2018

30104763 (PubMed )
Supplement: NIHMS78219-supplement-3.xlsx › mutated_cases

Current knowledge on procaspase-1 variants with reduced or abrogated enzymatic activity in autoinflammatory disease.

Luksch H et al.

Current Rheumatology Reports, 2015

Human procaspase-1 variants with decreased enzymatic activity are associated with febrile episodes and may contribute to inflammation via RIP2 and NF-κB signaling.

Heymann MC et al.

Journal of Immunology (baltimore, Md. : 1950), 2014

Naturally occurring genetic variants of human caspase-1 differ considerably in structure and the ability to activate interleukin-1β.

Luksch H et al.

Human Mutation, 2013

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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."