Gene Variant Detail

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Gene RUNX1
Variant S140_G141del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions RUNX1 S140_G141del results in the deletion of two amino acids within the Runt domain of the Runx1 protein from amino acids 140 to 141 (UniProt.org). S140_G141del 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.34880563_34880568delCACTTC
cDNA c.420_425delTGGAAG
Protein p.S140_G141delSG
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011529767.2 chr21:g.34880605_34880610delGGTTCT c.418_423delAACCAG p.N140_Q141delNQ RefSeq GRCh38/hg38
XM_011529768 chr21:g.34880605_34880610delGGTTCT c.418_423delAACCAG p.N140_Q141delNQ RefSeq GRCh38/hg38
XM_017028487 chr21:g.34859512_34859517delGCTCTG c.419_424delGAGCCA p.R140_A141delRA RefSeq GRCh38/hg38
NM_001122607.1 chr21:g.34880563_34880568delCACTTC c.420_425delTGGAAG p.S140_G141delSG RefSeq GRCh38/hg38
XM_011529770 chr21:g.34880642_34880647delCGAGTA c.418_423delTACTCG p.Y140_S141delYS RefSeq GRCh38/hg38
XM_011529768.2 chr21:g.34880605_34880610delGGTTCT c.418_423delAACCAG p.N140_Q141delNQ RefSeq GRCh38/hg38
NM_001754 chr21:g.34880642_34880647delCGAGTA c.418_423delTACTCG p.Y140_S141delYS RefSeq GRCh38/hg38
XM_017028487.1 chr21:g.34859512_34859517delGCTCTG c.419_424delGAGCCA p.R140_A141delRA RefSeq GRCh38/hg38
XM_005261069.4 chr21:g.34880642_34880647delCGAGTA c.418_423delTACTCG p.Y140_S141delYS RefSeq GRCh38/hg38
XM_011529766.2 chr21:g.34880642_34880647delCGAGTA c.418_423delTACTCG p.Y140_S141delYS RefSeq GRCh38/hg38
XM_011529766 chr21:g.34880642_34880647delCGAGTA c.418_423delTACTCG p.Y140_S141delYS RefSeq GRCh38/hg38
NM_001754.4 chr21:g.34880642_34880647delCGAGTA c.418_423delTACTCG p.Y140_S141delYS RefSeq GRCh38/hg38
NM_001001890.2 chr21:g.34880563_34880568delCACTTC c.420_425delTGGAAG p.S140_G141delSG RefSeq GRCh38/hg38
XM_011529767 chr21:g.34880605_34880610delGGTTCT c.418_423delAACCAG p.N140_Q141delNQ RefSeq GRCh38/hg38
XM_005261068 chr21:g.34880606_34880611delGTTCTT c.418_423delAAGAAC p.K140_N141delKN RefSeq GRCh38/hg38
NM_001122607 chr21:g.34880563_34880568delCACTTC c.420_425delTGGAAG p.S140_G141delSG RefSeq GRCh38/hg38
XM_011529770.2 chr21:g.34880642_34880647delCGAGTA c.418_423delTACTCG p.Y140_S141delYS RefSeq GRCh38/hg38
NM_001001890 chr21:g.34880563_34880568delCACTTC c.420_425delTGGAAG p.S140_G141delSG RefSeq GRCh38/hg38
XM_005261069 chr21:g.34880642_34880647delCGAGTA c.418_423delTACTCG p.Y140_S141delYS RefSeq GRCh38/hg38
XM_005261068.3 chr21:g.34880606_34880611delGTTCTT c.418_423delAAGAAC p.K140_N141delKN RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • 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 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 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 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
Molecular Profile Protein Effect Treatment Approaches
RUNX1 S140_G141del unknown