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Gene | NRAS |
Variant | G12D |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | NRAS G12D is a hotspot mutation that lies within a GTP-binding region of the Nras protein (UniProt.org). G12D confers a loss of function on Nras protein as indicated by decreased intrinsic GTPase activity, reduced sensitivity to GTPase-activating proteins, leading to accumulation of GTP-bound Nras, activation of downstream signaling, and transformation of cultured cells (PMID: 19075190, PMID: 25252692). |
Associated Drug Resistance | |
Category Variants Paths |
NRAS mutant NRAS act mut NRAS G12D NRAS mutant NRAS exon2 NRAS G12X NRAS G12D |
Transcript | NM_002524.5 |
gDNA | chr1:g.114716126C>T |
cDNA | c.35G>A |
Protein | p.G12D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002524.5 | chr1:g.114716126C>T | c.35G>A | p.G12D | RefSeq | GRCh38/hg38 |
NM_002524.4 | chr1:g.114716126C>T | c.35G>A | p.G12D | RefSeq | GRCh38/hg38 |
NM_002524 | chr1:g.114716126C>T | c.35G>A | p.G12D | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
NRAS G12D | loss of function | MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor PI3K Inhibitor (Pan) PIK3CA inhibitor RAS Inhibitor (Pan) |
BRAF D594G NRAS G12D | ||
DNMT3A R882H NRAS G12D | ||
FLT3 exon 14 ins NRAS G12D | ||
FLT3 exon 14 ins FLT3 D835X NRAS G12D NRAS G12S | ||
CBL Q367_E373delinsRLK FLT3 exon 14 ins FLT3 D835X NRAS G12D | ||
NRAS G12D NRAS L95H |