Varaico: Literature-Extracted Genetic Variants

Gene:CARD14
Variant:p.R682W
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CARD14

NM_001366385.1:p.R682W

Associated Papers

The potential of deep learning on the discovery of new genes implicated in differences of sex development.

von der Decken I et al.

Computational and Structural Biotechnology Journal, 2026

Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.

Kuligina ES et al.

Cancers, 2025

41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4b.xlsx › All_candidate_mutations

Regulation of MYC by CARD14 in human epithelium is a determinant of epidermal homeostasis and disease.

DeVore SB et al.

Cell Reports, 2024

39110589 (PubMed )
Supplement: NIHMS2019535-supplement-1.pdf

Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders.

Atzmony L et al.

Pediatric Dermatology, 2022

Association of CARD14 Single-Nucleotide Polymorphisms with Psoriasis.

Suleman S et al.

International Journal of Molecular Sciences, 2022

Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.

Arnadottir GA et al.

Nature Communications, 2022

35121750 (PubMed )
Supplement: 41467_2022_28330_MOESM4_ESM.xlsx › Sheet1

Divergent Roles of PI3K Isoforms in PTEN-Deficient Glioblastomas.

Xie S et al.

Cell Reports, 2020

32997991 (PubMed )
Supplement: NIHMS1633676-supplement-2.xlsx › BT224_Mutations

The management and genetic background of pityriasis rubra pilaris: a single-centre experience.

Gál B et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2019

Nuclear Factor κB Activation in a Type V Pityriasis Rubra Pilaris Patient Harboring Multiple CARD14 Variants.

Danis J et al.

Frontiers in Immunology, 2018

CARD14/CARMA2 Signaling and its Role in Inflammatory Skin Disorders.

Zotti T et al.

Frontiers in Immunology, 2018

Clinical and Genetic Heterogeneity of CARD14 Mutations in Psoriatic Skin Disease.

Israel L et al.

Frontiers in Immunology, 2018

Dupuytren's and Ledderhose Diseases in a Family with LMNA-Related Cardiomyopathy and a Novel Variant in the ASTE1 Gene.

Zaragoza MV et al.

Cells, 2017

29104234 (PubMed )
Supplement: cells-06-00040-s001.pdf

CARD14-Mediated Activation of Paracaspase MALT1 in Keratinocytes: Implications for Psoriasis.

Van Nuffel E et al.

The Journal of Investigative Dermatology, 2017

Common and rare CARD14 gene variants affect the antitumour necrosis factor response among patients with psoriasis.

Coto-Segura P et al.

The British Journal of Dermatology, 2016

Analysis of CARD14 Polymorphisms in Pityriasis Rubra Pilaris: Activation of NF-κB.

Li Q et al.

The Journal of Investigative Dermatology, 2015

How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.

Middha S et al.

Frontiers in Genetics, 2015

26257771 (PubMed )
Supplement: Table12.XLSX › snv.tier2

Variant analysis of CARD14 in a Chinese Han population with psoriasis vulgaris and generalized pustular psoriasis.

Qin P et al.

The Journal of Investigative Dermatology, 2014

The three CARMA sisters: so different, so similar: a portrait of the three CARMA proteins and their involvement in human disorders.

Scudiero I et al.

Journal of Cellular Physiology, 2014

Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis.

Jordan CT et al.

American Journal of Human Genetics, 2012

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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."