Varaico: Literature-Extracted Genetic Variants

Gene:GFI1
Variant:p.S36N
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GFI1

NM_005263.5:p.S36N

Associated Papers

Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.

Kuligina ES et al.

Cancers, 2025

41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4a.xlsx › Table_S4a

Germ line variant GFI1-36N affects DNA repair and sensitizes AML cells to DNA damage and repair therapy.

Frank D et al.

Blood, 2023

37756525 (PubMed )
Supplement: BLOOD_BLD-2022-015752-mmc4.pdf

Assessment of Rare Genetic Variants to Identify Candidate Modifier Genes Underlying Neurological Manifestations in Neurofibromatosis 1 Patients.

Tang J et al.

Genes, 2022

36553485 (PubMed )
Supplement: genes-13-02218-s001.zip › Supplemental_tables.xlsx › S2

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › Oncogenes

From cytopenia to leukemia: the role of Gfi1 and Gfi1b in blood formation.

Möröy T et al.

Blood, 2015

Genetic analysis and clinical picture of severe congenital neutropenia in Israel.

Lebel A et al.

Pediatric Blood & Cancer, 2015

Differential transcriptional regulation of meis1 by Gfi1b and its co-factors LSD1 and CoREST.

Chowdhury AH et al.

Plos One, 2013

A variant allele of Growth Factor Independence 1 (GFI1) is associated with acute myeloid leukemia.

Khandanpour C et al.

Blood, 2010

Mosaic tetraploidy and transient GFI1 mutation in a patient with severe chronic neutropenia.

Hochberg JC et al.

Pediatric Blood & Cancer, 2008

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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."