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| Gene | NRAS |
| Variant | T50I |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | NRAS T50I does not lie within any known functional domains of the Nras protein (UniProt.org). T50I has no effect on the intrinsic Nras GTPase activity and sensitivity to GTPase-activating proteins or guanine nucleotide exchange factor, but increases phosphorylation of Erk and Mel in cell culture (PMID: 19966803), potentially through altering Nras membrane orientation and strengthening effector binding based on structural modeling of the Hras protein (PMID: 18273062), and therefore, is predicted to lead to a gain of Nras protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
NRAS mutant NRAS act mut NRAS T50I NRAS mutant NRAS exon3 NRAS T50I |
| Transcript | NM_002524.5 |
| gDNA | chr1:g.114713941G>A |
| cDNA | c.149C>T |
| Protein | p.T50I |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002524 | chr1:g.114713941G>A | c.149C>T | p.T50I | RefSeq | GRCh38/hg38 |
| NM_002524.5 | chr1:g.114713941G>A | c.149C>T | p.T50I | RefSeq | GRCh38/hg38 |
| NM_002524.4 | chr1:g.114713941G>A | c.149C>T | p.T50I | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| NRAS T50I | gain of function - predicted | MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor PI3K Inhibitor (Pan) PIK3CA inhibitor RAS Inhibitor (Pan) |