Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1
Variant:p.S167N
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RUNX1

NM_001754.5:p.S167N

Associated Papers

Revision of RUNX1 variant curation rules.

Feurstein S et al.

Blood Advances, 2022

35764482 (PubMed )
Supplement: advancesADV2022008017-suppl1.pdf

The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.

Hudler P et al.

Genes, 2022

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

RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.

Brown AL et al.

Blood Advances, 2020

Role of RUNX1 in hematological malignancies.

Sood R et al.

Blood, 2017

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