Varaico: Literature-Extracted Genetic Variants

Gene:HAVCR2
Variant:p.I97M
Back to variants list

HAVCR2

NM_032782.5:p.I97M

Associated Papers

A novel loss of function mutation in the HAVCR2 gene in a patient diagnosed with Hodgkin's lymphoma.

Erdem S et al.

Immunologic Research, 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

Genomic Landscape of Susceptibility to Severe COVID-19 in the Slovenian Population.

Kovanda A et al.

International Journal of Molecular Sciences, 2024

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

Pernaa N et al.

Journal of Clinical Immunology, 2024

Post-transplant Inflammatory Bowel Disease Associated with Donor-Derived TIM-3 Deficiency.

Baldrich A et al.

Journal of Clinical Immunology, 2024

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

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

Rare genetic variants involved in multisystem inflammatory syndrome in children: a multicenter Brazilian cohort study.

Reis BCSD et al.

Frontiers in Cellular and Infection Microbiology, 2023

Routine Diagnostics Confirm Novel Neurodevelopmental Disorders.

Jauss RT et al.

Genes, 2022

36553572 (PubMed )
Supplement: genes-13-02305-s001.zip › genes-2014296-supplementary.xlsx › Supplementary_Table_1

Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program 'iTHER'.

Langenberg KPS et al.

European Journal of Cancer (oxford, England : 1990), 2022

36182817 (PubMed )
Supplement: mmc6.xlsx › Sheet1

Genetics Abnormalities with Clinical Impact in Primary Cutaneous Lymphomas.

Gallardo F et al.

Cancers, 2022

Identification of variants in genes associated with autoinflammatory disorders in a cohort of patients with psoriatic arthritis.

Atschekzei F et al.

Rmd Open, 2022

Treatment of an HLH-mimic disease based on HAVCR2 variants with absent TIM-3 expression.

Tromp SAM et al.

Blood Advances, 2022

Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19.

López-Rodríguez R et al.

Scientific Reports, 2022

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

Advances in the understanding and treatment of Cutaneous T-cell Lymphoma.

Bakr FS 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

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

Gayden T et al.

Nature Genetics, 2019

Publisher Correction: Cancer genetics, precision prevention and a call to action.

Turnbull C et al.

Nature Genetics, 2019

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

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A08F-01A.domain

T-cell immunoglobulin and mucin domain 3 genetic polymorphisms are associated with rheumatoid arthritis independent of a shared epitope status.

Song YW et al.

Human Immunology, 2011

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."