Gene Variant Detail

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Gene NRAS
Variant G12V
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions NRAS G12V is a hotspot mutation that lies within a GTP-binding region of the Nras protein (UniProt.org). G12V confers a loss of function on Nras protein as indicated by accumulation of GTP-bound Nras, loss of GTPase-activating protein sensitivity, leading to increased downstream pathway activation in cell culture (PMID: 19966803).
Associated Drug Resistance
Category Variants Paths

NRAS mutant NRAS act mut NRAS G12V

NRAS mutant NRAS exon2 NRAS G12X NRAS G12V

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Transcript NM_002524.5
gDNA chr1:g.114716126C>A
cDNA c.35G>T
Protein p.G12V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002524.5 chr1:g.114716126C>A c.35G>T p.G12V RefSeq GRCh38/hg38
NM_002524.4 chr1:g.114716126C>A c.35G>T p.G12V RefSeq GRCh38/hg38
NM_002524 chr1:g.114716126C>A c.35G>T p.G12V RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Protein Effect Treatment Approaches
NRAS G12V loss of function MEK inhibitor (Pan) MEK1 Inhibitor MEK2 Inhibitor PI3K Inhibitor (Pan) PIK3CA inhibitor RAS Inhibitor (Pan)
BRAF V600E NRAS G12V
BRAF V600E CDKN2A loss NRAS G12V
BRAF G469E NRAS G12V