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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, potentially through altering Nras membrane orientation and strengthening effector binding based on structural modeling of the Hras protein (PMID: 19966803, 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_002524.4 | 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 |
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) |