Varaico: Literature-Extracted Genetic Variants

Gene:CARD8
Variant:p.F102I
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CARD8

NM_001184900.3:p.F102I

Associated Papers

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

Pharmacogenomic landscape of TNF inhibitors in the Middle Eastern Qatari population.

Jan Z et al.

Frontiers in Immunology, 2025

41346622 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_8

CARD8: A Novel Inflammasome Sensor with Well-Known Anti-Inflammatory and Anti-Apoptotic Activity.

Karakaya T et al.

Cells, 2024

A common variant close to the "tripwire" linker region of NLRP1 contributes to severe COVID-19.

Leal VNC et al.

Inflammation Research : Official Journal of the European Histamine Research Society ... [et Al.], 2023

Host-specific sensing of coronaviruses and picornaviruses by the CARD8 inflammasome.

Tsu BV et al.

Plos Biology, 2023

37289745 (PubMed )
Supplement: pbio.3002144.s024.xlsx › S5_Table

The NESHIE and CP Genetics Resource (NCGR): A database of genes and variants reported in neonatal encephalopathy with suspected hypoxic ischemic encephalopathy (NESHIE) and consequential cerebral palsy (CP).

Holborn MA et al.

Genomics, 2022

36270382 (PubMed )
Supplement: mmc6.xlsx › New_2

Host specific sensing of coronaviruses and picornaviruses by the CARD8 inflammasome.

Tsu BV et al.

Biorxiv : the Preprint Server for Biology, 2022

36172130 (PubMed )
Supplement: media-1.xlsx › Table_5

Associations of NLRP3 and CARD8 gene polymorphisms with alcohol dependence and commonly related psychiatric disorders: a preliminary study.

Ilješ AP et al.

Arhiv Za Higijenu Rada I Toksikologiju, 2021

CARD8 polymorphism rs2043211 protects against noise-induced hearing loss by causing the dysfunction of CARD8 protein.

Miao L et al.

Environmental Science and Pollution Research International, 2021

IL-6 -572C>G and CARD8 304T>A Genetic Polymorphisms are Associated with the Absolute Neutrophil Count in Patients with Hematological Malignancies Under Chemotherapy: An Application of Multilevel Models to a Preliminary Pharmacogenetic Study.

Martinez MF et al.

Pharmacogenomics and Personalized Medicine, 2020

Antagonistic role of IL-1ß and NLRP3/IL-18 genetics in chronic HIV-1 infection.

Reis EC et al.

Clinical Immunology (orlando, Fla.), 2019

Dual Role of PTPN22 but Not NLRP3 Inflammasome Polymorphisms in Type 1 Diabetes and Celiac Disease in Children.

Smigoc Schweiger D et al.

Frontiers in Pediatrics, 2019

Loss-of-function CARD8 mutation causes NLRP3 inflammasome activation and Crohn's disease.

Mao L et al.

The Journal of Clinical Investigation, 2018

Dissecting the Mutational Landscape of Cutaneous Melanoma: An Omic Analysis Based on Patients from Greece.

Kontogianni G et al.

Cancers, 2018

29596374 (PubMed )
Supplement: cancers-10-00096-s001.zip › Table_S1.xlsx › S1

The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Lim CH et al.

Oncotarget, 2016

27175599 (PubMed )
Supplement: oncotarget-07-39758-s006.xlsx › TableS5

Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.

Di Gioia SA et al.

Scientific Reports, 2015

25988833 (PubMed )
Supplement: srep10200-s1.pdf

Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.

Torella A et al.

Plos One, 2013

23667635 (PubMed )
Supplement: pone.0063536.s006.xlsx › LGMD1F_HET_in_all

Novel isoforms of the CARD8 (TUCAN) gene evade a nonsense mutation.

Bagnall RD et al.

European Journal of Human Genetics : Ejhg, 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."