Varaico: Literature-Extracted Genetic Variants

Gene:CARMIL2
Variant:p.Q575E
Back to variants list

CARMIL2

NM_001013838.3:p.Q575E

Associated Papers

A CARMIL2 gain-of-function mutation suffices to trigger most CD28 costimulatory functions in vivo.

Zhang F et al.

The Journal of Experimental Medicine, 2025

Distinctive genomic features of human T-lymphotropic virus type 1-related adult T-cell leukemia-lymphoma in Western populations.

Myers CS et al.

Haematologica, 2024

TCR Pathway Mutations in Mature T Cell Lymphomas.

Zhang Y et al.

Journal of Immunology (baltimore, Md. : 1950), 2023

Deregulation of JAK2 signaling underlies primary cutaneous CD8+ aggressive epidermotropic cytotoxic T-cell lymphoma.

Bastidas Torres AN et al.

Haematologica, 2022

33792220 (PubMed )
Supplement: 2020_274506_TORRES_SUPPL.pdf

Integrated genomic analyses of cutaneous T-cell lymphomas reveal the molecular bases for disease heterogeneity.

Park J et al.

Blood, 2021

RLTPR Q575E: A novel recurrent gain-of-function mutation in patients with adult T-cell leukemia/lymphoma.

Uchida Y et al.

European Journal of Haematology, 2021

Contribution of STAT3 and RAD23B in Primary Sézary Cells to Histone Deacetylase Inhibitor FK228 Resistance.

Butler RM et al.

The Journal of Investigative Dermatology, 2019

Genomic analysis reveals recurrent deletion of JAK-STAT signaling inhibitors HNRNPK and SOCS1 in mycosis fungoides.

Bastidas Torres AN et al.

Genes, Chromosomes & Cancer, 2018

Genomic Analyses Identify Recurrent Alterations in Immune Evasion Genes in Diffuse Large B-Cell Lymphoma, Leg Type.

Zhou XA et al.

The Journal of Investigative Dermatology, 2018

Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency.

Alazami AM et al.

Frontiers in Immunology, 2018

Genomic analysis of 220 CTCLs identifies a novel recurrent gain-of-function alteration in RLTPR (p.Q575E).

Park J et al.

Blood, 2017

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."