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Gene RUNX1
Variant E116_A120del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions RUNX1 E116_A120del results in the deletion of five amino acids within the Runt domain of the Runx1 protein from amino acids 116 to 120 (UniProt.org). E116_A120del has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Feb 2021).
Associated Drug Resistance

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Transcript NM_001001890.2
gDNA chr21:g.34880627_34880641del15
cDNA c.346_360del15
Protein p.E116_A120delELRNA
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005261069.4 chr21:g.34880705_34886848del6144 c.346_360del6144 p.F116_A120delFKVVA RefSeq GRCh38/hg38
XM_005261069 chr21:g.34880705_34886848del6144 c.346_360del6144 p.F116_A120delFKVVA RefSeq GRCh38/hg38
XM_011529766 chr21:g.34880705_34886848del6144 c.346_360del6144 p.F116_A120delFKVVA RefSeq GRCh38/hg38
NM_001122607.1 chr21:g.34880627_34880641del15 c.346_360del15 p.E116_A120delELRNA RefSeq GRCh38/hg38
XM_017028487 chr21:g.34859575_34880567del20993 c.348_362del20993 p.G117_S121delGRGKS RefSeq GRCh38/hg38
XM_011529768.2 chr21:g.34880666_34880680del15 c.346_360del15 p.L116_M120delLVTVM RefSeq GRCh38/hg38
NM_001122607 chr21:g.34880627_34880641del15 c.346_360del15 p.E116_A120delELRNA RefSeq GRCh38/hg38
NM_001001890.2 chr21:g.34880627_34880641del15 c.346_360del15 p.E116_A120delELRNA RefSeq GRCh38/hg38
XM_011529770.2 chr21:g.34880705_34886848del6144 c.346_360del6144 p.F116_A120delFKVVA RefSeq GRCh38/hg38
NM_001001890 chr21:g.34880627_34880641del15 c.346_360del15 p.E116_A120delELRNA RefSeq GRCh38/hg38
XM_005261068 chr21:g.34880669_34880683del15 c.347_361del15 p.T116_V120delTLVTV RefSeq GRCh38/hg38
XM_011529770 chr21:g.34880705_34886848del6144 c.346_360del6144 p.F116_A120delFKVVA RefSeq GRCh38/hg38
XM_011529767 chr21:g.34880666_34880680del15 c.346_360del15 p.L116_M120delLVTVM RefSeq GRCh38/hg38
XM_011529766.2 chr21:g.34880705_34886848del6144 c.346_360del6144 p.F116_A120delFKVVA RefSeq GRCh38/hg38
NM_001754 chr21:g.34880705_34886848del6144 c.346_360del6144 p.F116_A120delFKVVA RefSeq GRCh38/hg38
XM_005261068.3 chr21:g.34880669_34880683del15 c.347_361del15 p.T116_V120delTLVTV RefSeq GRCh38/hg38
XM_011529767.2 chr21:g.34880666_34880680del15 c.346_360del15 p.L116_M120delLVTVM RefSeq GRCh38/hg38
XM_017028487.1 chr21:g.34859575_34880567del20993 c.348_362del20993 p.G117_S121delGRGKS RefSeq GRCh38/hg38
XM_011529768 chr21:g.34880666_34880680del15 c.346_360del15 p.L116_M120delLVTVM RefSeq GRCh38/hg38
NM_001754.4 chr21:g.34880705_34886848del6144 c.346_360del6144 p.F116_A120delFKVVA RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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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 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 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 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...
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 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 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...
Molecular Profile Protein Effect Treatment Approaches
RUNX1 E116_A120del unknown