Varaico: Literature-Extracted Genetic Variants

Gene:HAVCR2
Variant:p.Y82C
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HAVCR2

NM_032782.5:p.Y82C

Associated Papers

Whole Exome Sequencing for the Identification of Mutations in Bone Marrow CD34+Cells in Hodgkin Lymphoma.

Trang PTH et al.

Current Issues in Molecular Biology, 2025

Different Mutational Profiles of Subcutaneous Panniculitis-like T-cell Lymphoma and Lupus Panniculitis: An Additional Case Series.

Machan S et al.

Actas Dermo-sifiliograficas, 2025

Characteristics and therapeutic outcomes of subcutaneous panniculitis-like T-cell lymphoma with and without germline HAVCR2 mutations in Thai children and adolescents.

Youthong P et al.

Orphanet Journal of Rare Diseases, 2024

Genetic profiles and clinical features in subcutaneous panniculitis-like T-cell lymphomas.

Okamura Y et al.

Cancer Science, 2024

An investigation of germline variants of HAVCR2 in subcutaneous panniculitis-like T-cell lymphoma and related lesions in a North American population.

Cheng J et al.

Haematologica, 2024

Therapeutic efficacy of allogenic haematopoietic stem cell transplantation from an appropriate sibling donor to a patient with subcutaneous panniculitis-like T-cell lymphoma with a germline homozygous HAVCR2 mutation.

Morisaka H et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2024

Pediatric lymphoproliferative disorders associated with inborn errors of immunity.

Cheng J et al.

Clinical Immunology (orlando, Fla.), 2024

Germline HAVCR2/TIM-3 Checkpoint Inhibitor Receptor Deficiency in Recurrent Autoinflammatory Myocarditis.

Pernaa N et al.

Journal of Clinical Immunology, 2024

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_10

Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia.

Liu Y et al.

Bmc Oral Health, 2024

38280992 (PubMed )
Supplement: 12903_2024_3888_MOESM2_ESM.xls › Supplementary_Table_1

Subcutaneous panniculitis-like T-cell lymphoma associated with hemophagocytic lymphohistiocytosis: a systematic review of 63 patients reported in the literature.

Ou W et al.

Clinical and Experimental Medicine, 2023

Subcutaneous Panniculitis-like T-cell Lymphoma Lacking Subcutaneous Tumor Mimicking Adult-onset Still's Disease.

Tada M et al.

Internal Medicine (tokyo, Japan), 2023

Germline HAVCR2 mutations and their relation to the clinical spectrum of subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis: results from a multicenter study and meta-analysis.

Moonla C et al.

Haematologica, 2023

Efficacy of ruxolitinib for HAVCR2 mutation-associated hemophagocytic lymphohistiocytosis and panniculitis manifestations in children.

Zhang Q et al.

British Journal of Haematology, 2023

Case Report: HAVCR2 mutation-associated Hemophagocytic lymphohistiocytosis.

Song D et al.

Frontiers in Immunology, 2023

Genetics Abnormalities with Clinical Impact in Primary Cutaneous Lymphomas.

Gallardo F et al.

Cancers, 2022

Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.

Miao M et al.

Bmc Medical Genomics, 2022

35831859 (PubMed )
Supplement: 12920_2022_1311_MOESM1_ESM.xls › filtered_data

T Cell Defects: New Insights Into the Primary Resistance Factor to CD19/CD22 Cocktail CAR T-Cell Immunotherapy in Diffuse Large B-Cell Lymphoma.

Wang J et al.

Frontiers in Immunology, 2022

35572515 (PubMed )
Supplement: Table_2.xlsx › S6

A novel germline HAVCR2 (TIM-3) compound heterozygous mutation is related to hemophagocytic lymphohistiocytic syndrome in EBV-positive peripheral T-cell lymphoma (NOS) with down-regulated TIM-3 signaling.

Zhang Y et al.

Frontiers in Oncology, 2022

Subcutaneous panniculitis-like T-cell lymphomas with homozygous inheritance of HAVCR2 mutations in Vietnamese pedigrees.

Nguyen MC et al.

Pediatric Blood & Cancer, 2021

Subcutaneous panniculitis-like T-cell lymphoma in a 14-year-old female homozygous for HAVCR2 mutation.

Frederiks AJ et al.

The Australasian Journal of Dermatology, 2021

Genetic profiles of subcutaneous panniculitis-like T-cell lymphoma and clinicopathological impact of HAVCR2 mutations.

Koh J et al.

Blood Advances, 2021

Subcutaneous Panniculitis-like T-Cell Lymphoma With Hemophagocytic Lymphohistiocytosis Syndrome in Children and Its Essential Role of HAVCR2 Gene Mutation Analysis.

Chaweephisal P et al.

Journal of Pediatric Hematology/oncology, 2021

TIM-3 deficiency presenting with two clonally unrelated episodes of mesenteric and subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis.

Wegehaupt O et al.

Pediatric Blood & Cancer, 2020

TIM3 comes of age as an inhibitory receptor.

Wolf Y et al.

Nature Reviews. Immunology, 2020

Frequent germline mutations of HAVCR2 in sporadic subcutaneous panniculitis-like T-cell lymphoma.

Polprasert C et al.

Blood Advances, 2019

Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.

Ling C et al.

Bmc Medical Genetics, 2019

30642278 (PubMed )
Supplement: 12881_2018_725_MOESM2_ESM.xlsx › Sheet1

Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome.

Gayden T et al.

Nature Genetics, 2018

Human disease mutations highlight the inhibitory function of TIM-3.

Dixon KO et al.

Nature Genetics, 2018

Insertion/deletion coding polymorphisms in hHAVcr-1 are not associated with atopic asthma in the Japanese population.

Noguchi E et al.

Genes and Immunity, 2003

Good prognosis of adult hemophagocytic lymphohistiocytosis associated with the germline HAVCR2 mutation.

Boonyabaramee P et al.

Experimental Hematology, 0

Pediatric Cutaneous T-Cell Neoplasms: Clinical and Pathological Features, Updated Classifications, and Critical Differential Diagnoses.

Cheng J et al.

Pediatric Dermatology, 0

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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."