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
dbSNP: rs104894227
rs104894227
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		C 0.810 CausalMutation CLINVAR We report a patient with typical Costello syndrome and a novel heterozygous missense mutation in codon 117 (c.350A>G, p.Lys117Arg) of the HRAS gene, resulting in constitutive activation of the RAS/MAPK pathway similar to the typical p.Gly12Ser and p.Gly12Ala mutations. 17979197 2008
dbSNP: rs104894227
rs104894227
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		0.810 GeneticVariation BEFREE We report a patient with typical Costello syndrome and a novel heterozygous missense mutation in codon 117 (c.350A>G, p.Lys117Arg) of the HRAS gene, resulting in constitutive activation of the RAS/MAPK pathway similar to the typical p.Gly12Ser and p.Gly12Ala mutations. 17979197 2008
dbSNP: rs727503094
rs727503094
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		0.750 GeneticVariation BEFREE We report a patient with Costello syndrome due to a rare tandem base substitution (c.35_36GC>AA) resulting in the p.G12E missense change. 25133308 2015
dbSNP: rs104894230
rs104894230
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0265329
Disease:
Organoid Nevus Phakomatosis 		0.720 GeneticVariation BEFREE We report a 6-year-old girl diagnosed with Schimmelpenning syndrome due to a postzygotic KRAS G12D mutation. 30443000 2019
dbSNP: rs727503094
rs727503094
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0265329
Disease:
Organoid Nevus Phakomatosis 		0.010 GeneticVariation BEFREE We report a 6-year-old girl diagnosed with Schimmelpenning syndrome due to a postzygotic KRAS G12D mutation. 30443000 2019
dbSNP: rs104894228
rs104894228
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0027962
Disease:
Melanocytic nevus 		0.010 GeneticVariation BEFREE We present details of a neonate with extensive naevus sebaceus in whom we identified a pathogenic mutation in HRAS (c.37G > C; p.Gly13Arg), but only in lesional skin DNA, consistent with a mosaic RASopathy. 26400620 2017
dbSNP: rs104894228
rs104894228
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C1456781
Disease:
Benign melanocytic nevus 		0.010 GeneticVariation BEFREE We present details of a neonate with extensive naevus sebaceus in whom we identified a pathogenic mutation in HRAS (c.37G > C; p.Gly13Arg), but only in lesional skin DNA, consistent with a mosaic RASopathy. 26400620 2017
dbSNP: rs104894228
rs104894228
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0027960
Disease:
Nevus 		0.010 GeneticVariation BEFREE We present details of a neonate with extensive naevus sebaceus in whom we identified a pathogenic mutation in HRAS (c.37G > C; p.Gly13Arg), but only in lesional skin DNA, consistent with a mosaic RASopathy. 26400620 2017
dbSNP: rs1434040739
rs1434040739
Entrez Id: 3265;115399;101059906
Gene Symbol: HRAS;LRRC56;LOC101059906
HRAS;LRRC56;LOC101059906
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		0.010 GeneticVariation BEFREE We performed detailed biochemical and functional studies of three mutant K-Ras proteins (P34R, D153V, and F156L) found in individuals with Noonan syndrome and cardiofaciocutaneous syndrome. 17875937 2007
dbSNP: rs1434040739
rs1434040739
Entrez Id: 3265;115399;101059906
Gene Symbol: HRAS;LRRC56;LOC101059906
HRAS;LRRC56;LOC101059906
CUI: C0028326
Disease:
Noonan Syndrome 		0.010 GeneticVariation BEFREE We performed detailed biochemical and functional studies of three mutant K-Ras proteins (P34R, D153V, and F156L) found in individuals with Noonan syndrome and cardiofaciocutaneous syndrome. 17875937 2007
dbSNP: rs766801436
rs766801436
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0006826
Disease:
Malignant Neoplasms 		0.010 GeneticVariation BEFREE We next expanded our analysis with 276 OSCC and 134 L/P-SCC sample data from The Cancer Genome Atlas (TCGA dataset). 29884412 2018
dbSNP: rs766801436
rs766801436
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C1306459
Disease:
Primary malignant neoplasm 		0.010 GeneticVariation BEFREE We next expanded our analysis with 276 OSCC and 134 L/P-SCC sample data from The Cancer Genome Atlas (TCGA dataset). 29884412 2018
dbSNP: rs104894230
rs104894230
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		G 0.840 CausalMutation CLINVAR We identified an unusual, new germline p.Gly12Val mutation, c.35_36GC>TG, in a 12-year-old boy with attenuated CS. 27195699 2016
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0028326
Disease:
Noonan Syndrome 		0.010 GeneticVariation BEFREE We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syndrome (G12S mutation in the HRAS gene) and one with cardio-facio-cutaneous (CFC) syndrome or possibly Noonan syndrome (Q22E mutation in the KRAS gene). 17324647 2007
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C1275081
Disease:
Cardio-facio-cutaneous syndrome 		0.010 GeneticVariation BEFREE We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syndrome (G12S mutation in the HRAS gene) and one with cardio-facio-cutaneous (CFC) syndrome or possibly Noonan syndrome (Q22E mutation in the KRAS gene). 17324647 2007
dbSNP: rs104894229
rs104894229
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0587248
Disease:
Costello syndrome (disorder) 		0.900 GeneticVariation BEFREE We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syndrome (G12S mutation in the HRAS gene) and one with cardio-facio-cutaneous (CFC) syndrome or possibly Noonan syndrome (Q22E mutation in the KRAS gene). 17324647 2007
dbSNP: rs121913496
rs121913496
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0334663
Disease:
Histiocytic sarcoma 		0.010 GeneticVariation BEFREE We have now identified a second missense mutation in PTPN11 (G503V), and a mutation in KRAS (Q61H) present in HS cell lines. 31277422 2019
dbSNP: rs104894230
rs104894230
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0596263
Disease:
Carcinogenesis 		0.040 GeneticVariation BEFREE We found that TRAIL expression is consistently downregulated in HRAS(G12V)-transformed cells in stepwise tumorigenesis models derived from four different tissues due to DNA hypermethylation of CpG clusters within the TRAIL promoter. 21697397 2011
dbSNP: rs727503094
rs727503094
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0596263
Disease:
Carcinogenesis 		0.040 GeneticVariation BEFREE We found that TRAIL expression is consistently downregulated in HRAS(G12V)-transformed cells in stepwise tumorigenesis models derived from four different tissues due to DNA hypermethylation of CpG clusters within the TRAIL promoter. 21697397 2011
dbSNP: rs104894230
rs104894230
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C1176475
Disease:
Ductal Carcinoma 		0.010 GeneticVariation BEFREE We employed the sensitive and quantitative Allele-specific Competitive Blocker PCR approach to characterize mutant cancer subpopulations in ductal carcinomas (DCs), examining five specific hotspot point mutations (PIK3CA H1047R, KRAS G12D, KRAS G12V, HRAS G12D, and BRAF V600E). 27108388 2016
dbSNP: rs727503094
rs727503094
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C1176475
Disease:
Ductal Carcinoma 		0.010 GeneticVariation BEFREE We employed the sensitive and quantitative Allele-specific Competitive Blocker PCR approach to characterize mutant cancer subpopulations in ductal carcinomas (DCs), examining five specific hotspot point mutations (PIK3CA H1047R, KRAS G12D, KRAS G12V, HRAS G12D, and BRAF V600E). 27108388 2016
dbSNP: rs104894230
rs104894230
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0152018
Disease:
Esophageal carcinoma 		0.710 GeneticVariation BEFREE We developed two mouse models of esophageal cancer by inoculating immunocompetent mice with syngeneic esophageal cell lines transformed by cyclin-D1 or mutant HRAS(G12V) and loss of p53. 21869822 2011
dbSNP: rs104894230
rs104894230
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0014859
Disease:
Esophageal Neoplasms 		0.010 GeneticVariation BEFREE We developed two mouse models of esophageal cancer by inoculating immunocompetent mice with syngeneic esophageal cell lines transformed by cyclin-D1 or mutant HRAS(G12V) and loss of p53. 21869822 2011
dbSNP: rs104894230
rs104894230
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0546837
Disease:
Malignant neoplasm of esophagus 		0.010 GeneticVariation BEFREE We developed two mouse models of esophageal cancer by inoculating immunocompetent mice with syngeneic esophageal cell lines transformed by cyclin-D1 or mutant HRAS(G12V) and loss of p53. 21869822 2011
dbSNP: rs727503094
rs727503094
Entrez Id: 3265;115399
Gene Symbol: HRAS;LRRC56
HRAS;LRRC56
CUI: C0152018
Disease:
Esophageal carcinoma 		0.010 GeneticVariation BEFREE We developed two mouse models of esophageal cancer by inoculating immunocompetent mice with syngeneic esophageal cell lines transformed by cyclin-D1 or mutant HRAS(G12V) and loss of p53. 21869822 2011