Varaico: Literature-Extracted Genetic Variants

Gene:TRAF7
Variant:p.H521R
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TRAF7

NM_032271.3:p.H521R

Associated Papers

The PERISCOPE Cohort: A Retrospective Study of Clinicopathological and TRAF7 Genetic Findings in Intraneural Perineurioma.

Cavalcanti EBU et al.

European Journal of Neurology, 2026

Adenomatoid tumour with perineural space involvement: the utility of next-generation sequencing in this diagnostic conundrum.

Chan N et al.

Pathology, 2024

Super-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas.

Youngblood MW et al.

Nature Communications, 2023

37805627 (PubMed )
Supplement: 41467_2023_41926_MOESM3_ESM.xlsx › SD1

TRAF7-mutated Fibromyxoid Spindle Cell Tumors Are Associated With an Aggressive Clinical Course and Harbor an Undifferentiated Sarcoma Methylation Signature: A Molecular and Clinicopathologic Study of 3 Cases.

Dermawan JK et al.

The American Journal of Surgical Pathology, 2023

TRAF7 mutations and immunohistochemical study of uterine adenomatoid tumor compared with malignant mesothelioma.

Itami H et al.

Human Pathology, 2021

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Castilla-Vallmanya L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.

Tokita MJ et al.

American Journal of Human Genetics, 2018

Adenomatoid tumors of the male and female genital tract are defined by TRAF7 mutations that drive aberrant NF-kB pathway activation.

Goode B et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018

Genomic analysis reveals frequent TRAF7 mutations in intraneural perineuriomas.

Klein CJ et al.

Annals of Neurology, 2017

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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."