Gene Variant Detail

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Gene HRAS
Variant Y40A
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions HRAS Y40A lies within the switch I region of the Hras protein (PMID: 11333268). Y40A results in decreased binding to Sos1 but responds to Sos-mediated nucleotide exchange, and demonstrates increased intrinsic GDP/GTP exchange rate in in vitro assays, and therefore, is predicted to lead to a gain of Hras protein function (PMID: 11333268).
Associated Drug Resistance
Category Variants Paths

HRAS mutant HRAS act mut HRAS Y40A

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Transcript NM_005343.4
gDNA chr11:g.533937_533938delTAinsGC
cDNA c.118_119delTAinsGC
Protein p.Y40A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005343.4 chr11:g.533937_533938delTAinsGC c.118_119delTAinsGC p.Y40A RefSeq GRCh38/hg38
NM_005343 chr11:g.533937_533938delTAinsGC c.118_119delTAinsGC p.Y40A RefSeq GRCh38/hg38
NM_176795.4 chr11:g.533937_533938delTAinsGC c.118_119delTAinsGC p.Y40A RefSeq GRCh38/hg38
NM_001130442 chr11:g.533937_533938delTAinsGC c.118_119delTAinsGC p.Y40A RefSeq GRCh38/hg38
NM_176795 chr11:g.533937_533938delTAinsGC c.118_119delTAinsGC p.Y40A RefSeq GRCh38/hg38
NM_001130442.3 chr11:g.533937_533938delTAinsGC c.118_119delTAinsGC p.Y40A RefSeq GRCh38/hg38
NM_176795.5 chr11:g.533937_533938delTAinsGC c.118_119delTAinsGC p.Y40A RefSeq GRCh38/hg38
NM_005343.3 chr11:g.533937_533938delTAinsGC c.118_119delTAinsGC p.Y40A RefSeq GRCh38/hg38
NM_001130442.2 chr11:g.533937_533938delTAinsGC c.118_119delTAinsGC p.Y40A 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References