Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1
Variant:p.G168R
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RUNX1

NM_001754.5:p.G168R

Associated Papers

Telomere attrition is common in patients with germline RUNX1 pathogenic variants.

Lawal RA et al.

Haematologica, 2026

Somatic mutations and outcomes in chronic myeloid leukemia adolescent and young adults compared to children, adults, and BCR::ABL1-positive acute lymphoblastic leukemia.

Krizkova J et al.

Leukemia, 2025

40295826 (PubMed )
Supplement: 41375_2025_2609_MOESM1_ESM.pdf

Impact of myelodysplasia-related gene mutations and residual mutations at remission in venetoclax/azacitidine for AML.

Ikoma Y et al.

Leukemia, 2025

40259101 (PubMed )
Supplement: 41375_2025_2625_MOESM2_ESM.xlsx › Sheet5

Two novel families with RUNX1 variants indicate glycine 168 as a new mutational hotspot: Implications for FPD/AML diagnosis.

Kamiya LJ et al.

British Journal of Haematology, 2024

The importance of genetic variant cleaners: From patient to wet lab and back to clinical practice.

Teruel-Montoya R et al.

British Journal of Haematology, 2024

Single-Cell DNA Sequencing Reveals an Evolutionary Pattern of CHIP in Transplant Eligible Multiple Myeloma Patients.

Borsi E et al.

Cells, 2024

38667272 (PubMed )
Supplement: cells-13-00657-s001.zip › cells-2905095-supplementary.pdf

Unrelated hematopoietic stem cell transplantation for familial platelet disorder/acute myeloid leukemia with germline RUNX1 mutations.

Toratani K et al.

International Journal of Hematology, 2023

The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy.

Homan CC et al.

Haematologica, 2021

34233450 (PubMed )
Supplement: 2021_278762_HOMAN_TABLE1_SUPPL.xlsx › Germline_RUNX1_registry

How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies.

Wu D et al.

Haematologica, 2020

ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.

Luo X et al.

Blood Advances, 2019

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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."