Varaico: Literature-Extracted Genetic Variants

Gene:SOCS1
Variant:p.Y64*
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SOCS1

NM_003745.2:p.Y64*

Associated Papers

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Schmidt A et al.

Nature Genetics, 2024

39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1

IL4Rα and IL17A Blockade Rescue Autoinflammation in SOCS1 Haploinsufficiency.

Gruber C et al.

Journal of Clinical Immunology, 2023

TP53 mutations predict for poor outcomes in patients with newly diagnosed aggressive B-cell lymphomas in the current era.

Landsburg DJ et al.

Blood Advances, 2023

37851898 (PubMed )
Supplement: BLOODA_ADV-2023-011384-mmc1.pdf

Molecular Characterization of Primary Mediastinal Large B-Cell Lymphomas.

Donzel M et al.

Cancers, 2023

37835560 (PubMed )
Supplement: cancers-15-04866-s001.zip › Suppl._Table._2.xlsx › Feuil1

Targeted panel sequencing in the routine diagnosis of mature T- and NK-cell lymphomas: report of 128 cases from two German reference centers.

Böck J et al.

Frontiers in Oncology, 2023

37664054 (PubMed )
Supplement: Table_1.xlsx › Table_S2

Targeted genotyping of circulating tumor DNA for classical Hodgkin lymphoma monitoring: a prospective study.

Camus V et al.

Haematologica, 2021

SOCS, SPRED, and NR4a: Negative regulators of cytokine signaling and transcription in immune tolerance.

Yoshimura A et al.

Proceedings of the Japan Academy. Series B, Physical and Biological Sciences, 2021

One Gene, Many Facets: Multiple Immune Pathway Dysregulation in SOCS1 Haploinsufficiency.

Körholz J et al.

Frontiers in Immunology, 2021

Whole-genome sequencing of a sporadic primary immunodeficiency cohort.

Thaventhiran JED et al.

Nature, 2020

SOCS1 mutation subtypes predict divergent outcomes in diffuse large B-Cell lymphoma (DLBCL) patients.

Schif B et al.

Oncotarget, 2013

23296022 (PubMed )
Supplement: oncotarget-04-035-s001.pdf
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