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Gene | NRAS |
Variant | Q61H |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | NRAS Q61H is a hotspot mutation that lies within a GTP-binding region of the Nras protein (UniProt.org). Q61H results in increased GTP-bound Nras, downstream pathway activation, and increased cell proliferation in culture (PMID: 23103856), and is predicted to lead to a loss of Nras protein function based on the effects of HRAS Q61H (PMID: 3510078) and KRAS Q61H (PMID: 20147967). |
Associated Drug Resistance | |
Category Variants Paths |
NRAS mutant NRAS act mut NRAS Q61H NRAS mutant NRAS exon3 NRAS Q61X NRAS Q61H |
Transcript | NM_002524.5 |
gDNA | chr1:g.114713907T>A |
cDNA | c.183A>T |
Protein | p.Q61H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002524 | chr1:g.114713907T>A | c.183A>T | p.Q61H | RefSeq | GRCh38/hg38 |
NM_002524.4 | chr1:g.114713907T>A | c.183A>T | p.Q61H | RefSeq | GRCh38/hg38 |
NM_002524.5 | chr1:g.114713907T>A | c.183A>T | p.Q61H | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
NRAS Q61H | loss of function - predicted | MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor PI3K Inhibitor (Pan) PIK3CA inhibitor RAS Inhibitor (Pan) |
NRAS Q61H PTEN over exp | ||
FLT3 exon 14 ins FLT3 D835X NRAS Q61H | ||
BRAF V600E NRAS Q61H |