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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 |