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Gene | RUNX1 |
Variant | P103R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | RUNX1 P103R (corresponds to P76R in the canonical isoform) lies within the Runt domain of the Runx1 protein (UniProt.org). P103R results in failure to inhibit ANKRD26 transcription in a reporter assay, leads to increased proliferation, decreased apoptosis, and impaired platelet production in cultured cells (PMID: 32944898). |
Associated Drug Resistance |
Transcript | NM_001754.4 |
gDNA | chr21:g.34886886G>C |
cDNA | c.308C>G |
Protein | p.P103R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011529770.2 | chr21:g.34886886G>C | c.308C>G | p.P103R | RefSeq | GRCh38/hg38 |
XM_005261069.4 | chr21:g.34886886G>C | c.308C>G | p.P103R | RefSeq | GRCh38/hg38 |
XM_011529766.2 | chr21:g.34886886G>C | c.308C>G | p.P103R | RefSeq | GRCh38/hg38 |
NM_001754.4 | chr21:g.34886886G>C | c.308C>G | p.P103R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
RUNX1 P103R | loss of function |