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| Gene | NRAS |
| Variant | G75_E76insDSAMRDQYMRTG |
| Impact List | insertion |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | NRAS G75_E76insDSAMRDQYMRTG results in the insertion of 12 amino acids in the Nras protein between amino acids 75 and 76 (UniProt.org). G75_E76insDSAMRDQYMRTG results in increased immature myeloid cells in a zebrafish model (PMID: 38522505), and therefore, is predicted to lead to a loss of Nras protein function resulting in activation of downstream signaling. |
| Associated Drug Resistance | |
| Category Variants Paths |
NRAS mutant NRAS act mut NRAS G75_E76insDSAMRDQYMRTG NRAS mutant NRAS exon3 NRAS G75_E76insDSAMRDQYMRTG |
| Transcript | NM_002524.5 |
| gDNA | chr1:g.114713864_114713865insACCTGTCCTCATATATTGGTCCCTCATTGCGCTGTC |
| cDNA | c.227_228insCAGCGCAATGAGGGACCAATATATGAGGACAGGTGA |
| Protein | p.G75_E76insDSAMRDQYMRTG |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002524.5 | chr1:g.114713864_114713865insACCTGTCCTCATATATTGGTCCCTCATTGCGCTGTC | c.227_228insCAGCGCAATGAGGGACCAATATATGAGGACAGGTGA | p.G75_E76insDSAMRDQYMRTG | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| NRAS G75_E76insDSAMRDQYMRTG | myelodysplastic/myeloproliferative neoplasm | sensitive | Mirdametinib | Preclinical | Actionable | In a preclinical study, Gomekli (mirdametinib) decreased the accumulation of immature myeloid cells in a zebrafish model of myelodysplastic/myeloproliferative neoplasm harboring NRAS G75_E76insDSAMRDQYMRTG (PMID: 38522505). | 38522505 |
| NRAS G75_E76insDSAMRDQYMRTG | myelodysplastic/myeloproliferative neoplasm | sensitive | Trametinib | Preclinical | Actionable | In a preclinical study, Mekinist (trametinib) decreased the accumulation of immature myeloid cells in a zebrafish model of myelodysplastic/myeloproliferative neoplasm harboring NRAS G75_E76insDSAMRDQYMRTG (PMID: 38522505). | 38522505 |