Gene Variant Detail

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Gene RUNX1
Variant L134Pfs*52
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions RUNX1 L134Pfs*52 indicates a shift in the reading frame starting at amino acid 134 and terminating 52 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). Due to the loss of a portion of the runt homology domain and the loss of the entire transactivation domain, L134Pfs*52 is predicted to lead to a loss of Runx1 protein function (PMID: 25840971).
Associated Drug Resistance

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Transcript NM_001001890.2
gDNA chr21:g.34880585dupG
cDNA c.400dupC
Protein p.L134Pfs*52
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001001890.2 chr21:g.34880585dupG c.400dupC p.L134Pfs*52 RefSeq GRCh38/hg38
NM_001122607 chr21:g.34880585_34880586insA c.398_399insT p.L134Pfs*52 RefSeq GRCh38/hg38
NM_001122607.1 chr21:g.34880585dupG c.400dupC p.L134Pfs*52 RefSeq GRCh38/hg38
NM_001001890 chr21:g.34880585_34880586insA c.398_399insT p.L134Pfs*52 RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RUNX1 mutant myelodysplastic syndrome not applicable N/A Clinical Study Prognostic In clinical analyses, RUNX1 mutations were associated with poor overall survival in patients with myelodysplastic syndrome (PMID: 21714648, PMID: 22869879). 22869879 21714648
RUNX1 mutant myelodysplastic syndrome not applicable N/A Guideline Prognostic RUNX1 mutations are associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
RUNX1 mutant essential thrombocythemia not applicable N/A Guideline Prognostic The presence of at least one mutation in either SH2B3, IDH2, U2AF1, SRSF2, SF3B1, EZH2, TP53, or RUNX1 is associated with inferior overall survival in patients with essential thrombocythemia (NCCN.org). detail...
RUNX1 mutant acute myeloid leukemia not applicable N/A Clinical Study Prognostic In clinical analyses, RUNX1 mutations were associated with adverse clinical outcome in acute myeloid leukemia patients (PMID: 21343560, PMID: 22689681, PMID: 22753902, PMID: 25652455). 21343560 25652455 22689681 22753902
RUNX1 mutant acute myeloid leukemia not applicable N/A Guideline Prognostic RUNX1 mutations are associated with a poor/adverse prognosis in patients with non-APL acute myeloid leukemia (NCCN.org). detail...
RUNX1 mutant polycythemia vera not applicable N/A Guideline Prognostic RUNX1 mutations are associated with inferior overall survival and leukemia-free survival in patients with polycythemia vera (NCCN.org). detail...
Molecular Profile Protein Effect Treatment Approaches
RUNX1 L134Pfs*52 loss of function - predicted