Varaico: Literature-Extracted Genetic Variants

Gene:CABIN1
Variant:p.L816F
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CABIN1

NM_012295.4:p.L816F

Associated Papers

A patient-derived CABIN1 mutation recapitulates features of idiopathic multicentric Castleman disease in a mouse model.

Laczko D et al.

Blood Advances, 2025

Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families.

Matis TS et al.

Npj Breast Cancer, 2021

PRR14L mutations are associated with chromosome 22 acquired uniparental disomy, age-related clonal hematopoiesis and myeloid neoplasia.

Chase A et al.

Leukemia, 2019

30573780 (PubMed )
Supplement: NIHMS79910-supplement-Supplementary_table_1.xlsx › MAF_1____not_in_control_exomes

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › e__Freq_TP095

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-9.xlsx › S_Data_8
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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."