HRAS, HRas proto-oncogene, GTPase, 3265
N. diseases: 698; N. variants: 29
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism. | 19206176 | 2009 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Severe neonatal manifestations of Costello syndrome. | 18039947 | 2008 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. | 17054105 | 2007 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Recurring HRAS mutation G12S in Dutch patients with Costello syndrome. | 16881968 | 2006 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. | 16443854 | 2006 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. | 16372351 | 2006 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Somatic mosaicism for an HRAS mutation causes Costello syndrome. | 16969868 | 2006 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. | 16329078 | 2006 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Germline mutations in HRAS proto-oncogene cause Costello syndrome. | 16170316 | 2005 | ||||||
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0.010 | GeneticVariation | BEFREE | Although some individuals with HRAS p.Gly13Asp developed papillomata and vascular proliferation lesions, no malignant tumors occurred, similar to what was reported for individuals harboring the HRAS p.Gly13Cys. | 28371260 | 2017 | |||||||
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0.010 | GeneticVariation | BEFREE | Hras(G12V) allele copy number was increased in all papillomas induced by TPA. | 24240680 | 2014 | |||||||
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0.010 | GeneticVariation | BEFREE | DMBA/TPA treatment of Hras(G12V) knock-in mice induced an even greater incidence of papillomas, which either harbored Hras(G12V) amplification or developed an Hras(Q61L) mutation in the second allele. | 24240680 | 2014 | |||||||
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0.010 | GeneticVariation | BEFREE | Hras(G12V) allele copy number was increased in all papillomas induced by TPA. | 24240680 | 2014 | |||||||
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0.010 | GeneticVariation | BEFREE | The 10 papillary carcinomas showed an overall lower frequency of mutations, including 1 with an AKT1 mutation (in a tumor arising from a papilloma), 1 with an NRAS gene mutation (Q61H), and 2 with PIK3CA mutations (1 overlapping with the NRAS Q61H). | 19898424 | 2010 |