ConVarT

ClinVar Data

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Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Frameshift Variant

Inframe Deletion

Missense Variant

Stop Gained

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
1-115251159-C-T	ENST00000369535	p.Met189Ile	Missense Variant	0	0	0	rs201471366
1-115251164-C-T	ENST00000369535	p.Val188Met	Missense Variant	1	31394	0.000032	rs730880381
1-115251165-C-T	ENST00000369535	p.Val187Val	Synonymous Variant	1	31410	0.000032	rs1392061627
1-115251170-A-T	ENST00000369535	p.Cys186Ser	Missense Variant	0	0	0	rs1447630265
1-115251171-T-C	ENST00000369535	p.Pro185Pro	Synonymous Variant	0	0	0	rs761356631
1-115251173-G-A	ENST00000369535	p.Pro185Ser	Missense Variant	1	31396	0.000032	rs374061873
1-115251178-C-A	ENST00000369535	p.Gly183Val	Missense Variant	0	0	0	rs559507315
1-115251178-C-G	ENST00000369535	p.Gly183Ala	Missense Variant	1	31406	0.000032	rs559507315
1-115251188-C-T	ENST00000369535	p.Gly180Ser	Missense Variant	0	0	0	rs779271866
1-115251191-G-T	ENST00000369535	p.Gln179Lys	Missense Variant	0	0	0	rs1348956162
1-115251195-C-T	ENST00000369535	p.Gly177Gly	Synonymous Variant	0	0	0	rs1430947551
1-115251203-C-T	ENST00000369535	p.Asp175Asn	Missense Variant	0	0	0	rs1322008733
1-115251207-G-A	ENST00000369535	p.Ser173Ser	Synonymous Variant	0	0	0	rs1362360449
1-115251222-C-T	ENST00000369535	p.Met168Ile	Missense Variant	0	0	0	rs367918552
1-115251224-T-C	ENST00000369535	p.Met168Val	Missense Variant	1	31406	0.000032	rs1212913135
1-115251235-C-T	ENST00000369535	p.Arg164His	Missense Variant	0	0	0	rs758669528
1-115251251-G-C	ENST00000369535	p.Leu159Val	Missense Variant	0	0	0	rs1357573899
1-115251252-T-A	ENST00000369535	p.Thr158Thr	Synonymous Variant	0	0	0	rs778179888
1-115251262-G-A	ENST00000369535	p.Ala155Val	Missense Variant	0	0	0	rs747080102
1-115251264-ATCT-A	ENST00000369535	p.Glu153del	Inframe Deletion	0	0	0	rs775442535

Showing 1 to 20 of 110 entries

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Post-translational Modifications (PTMs)

Methylation

Phosphorylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
NRAS	P01111	Ubiquitination	117	K117-ub	PMVLVGNkCDLPTRT	21.23	573760326
NRAS	P01111	Ubiquitination	128	K128-ub	PTRTVDTkQAHELAk	21.23	10835301
NRAS	P01111	Ubiquitination	135	K135-ub	kQAHELAkSyGIPFI	21.23	964531726
NRAS	P01111	Phosphorylation	137	Y137-p	AHELAkSyGIPFIET	21.23	31888794
NRAS	P01111	Ubiquitination	147	K147-ub	PFIETSAktRQGVED	21.23	15393349
NRAS	P01111	Phosphorylation	148	T148-p	FIETSAktRQGVEDA	21.23	23255772
NRAS	P01111	Phosphorylation	157	Y157-p	QGVEDAFytLVREIR	21.23	3916087
NRAS	P01111	Phosphorylation	158	T158-p	GVEDAFytLVREIRQ	21.23	55369353
NRAS	P01111	Phosphorylation	32	Y32-p	QNHFVDEyDPTIEDs	21.23	15228782
NRAS	P01111	Phosphorylation	39	S39-p	yDPTIEDsyRKQVVI	21.23	18261837
NRAS	P01111	Phosphorylation	40	Y40-p	DPTIEDsyRKQVVID	21.23	31084839
NRAS	P01111	Phosphorylation	64	Y64-p	DTAGQEEySAMRDQY	21.23	5840732
NRAS	P01111	Methylation	88	K88-m1	VFAINNSkSFADINL	21.23	27979236

Showing 1 to 13 of 13 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Complex - Frameshift

Deletion - Frameshift

Deletion - In Frame

Insertion - Frameshift

Insertion - In Frame

Nonstop Extension

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

Show entries

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position
NRAS	ENST00000369535	1038494	skin	malignant_melanoma	38017034	c.182A>G	p.Q61R	Substitution - Missense	PATHOGENIC	.98635	Reported in another cancer sample as somatic	PMID: 17119447	NS	61
NRAS	ENST00000369535	2162753	thyroid	carcinoma	171768149	c.?	p.Q61K	Substitution - Missense			Reported in another cancer sample as somatic	PMID: 24862939	NS	61
NRAS	ENST00000369535	1708675	thyroid	carcinoma	38017034	c.182A>G	p.Q61R	Substitution - Missense	PATHOGENIC	.98635	Reported in another cancer sample as somatic	PMID: 21796448	NS	61
NRAS	ENST00000369535	SK-MEL-182	NS	malignant_melanoma	171768017	c.?	p.Q61R	Substitution - Missense			Reported in another cancer sample as somatic	PMID: 21725359	NS	61
NRAS	ENST00000369535	1588044	thyroid	carcinoma	171768017	c.?	p.Q61R	Substitution - Missense			Confirmed somatic variant	PMID: 21216781	primary	61
NRAS	ENST00000369535	AML_322	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	38017080	c.182A>T	p.Q61L	Substitution - Missense	PATHOGENIC	.98801	Reported in another cancer sample as somatic	PMID: 27288520	primary	61
NRAS	ENST00000369535	1242343	soft_tissue	rhabdomyosarcoma	38017034	c.182A>G	p.Q61R	Substitution - Missense	PATHOGENIC	.98635	Reported in another cancer sample as somatic	PMID: 19681119	NS	61
NRAS	ENST00000369535	2355879	biliary_tract	carcinoma	171768019	c.?	p.?	Unknown			Reported in another cancer sample as somatic	PMID: 25680569	NS	0
NRAS	ENST00000369535	TARGET-20-PANGDN-09A-03D	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	38017039	c.38G>A	p.G13D	Substitution - Missense	PATHOGENIC	.91084	Confirmed somatic variant	PMID: N/A	primary	13
NRAS	ENST00000369535	P-0004272-T01-IM5	NS	malignant_melanoma	38017044	c.181C>A	p.Q61K	Substitution - Missense	PATHOGENIC	.99393	Confirmed somatic variant	PMID: 28481359	metastasis	61
NRAS	ENST00000369535	1509079	thyroid	carcinoma	38017044	c.181C>A	p.Q61K	Substitution - Missense	PATHOGENIC	.99393	Reported in another cancer sample as somatic	PMID: 9414190	primary	61
NRAS	ENST00000369535	1294833	skin	malignant_melanoma	171768149	c.?	p.Q61K	Substitution - Missense			Confirmed somatic variant	PMID: 19799798	metastasis	61
NRAS	ENST00000369535	TCGA-EM-A4G1-01	thyroid	carcinoma	38017034	c.182A>G	p.Q61R	Substitution - Missense	PATHOGENIC	.98635	Confirmed somatic variant	PMID: N/A	NS	61
NRAS	ENST00000369535	YULLON	skin	malignant_melanoma	38017727	c.183A>C	p.Q61H	Substitution - Missense	PATHOGENIC	.93007	Confirmed somatic variant	PMID: 22842228	NS	61
NRAS	ENST00000369535	SK-MEL-93-DX-3	skin	malignant_melanoma	38017034	c.182A>G	p.Q61R	Substitution - Missense	PATHOGENIC	.98635	Reported in another cancer sample as somatic	PMID: 2682463	metastasis	61
NRAS	ENST00000369535	2565253	skin	malignant_melanoma	171768017	c.?	p.Q61R	Substitution - Missense			Reported in another cancer sample as somatic	PMID: 23096702	NS	61
NRAS	ENST00000369535	218R	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	38019713	c.179G>A	p.G60E	Substitution - Missense	PATHOGENIC	.98737	Confirmed somatic variant	PMID: 27063598	recurrent	60
NRAS	ENST00000369535	TCGA-AB-2932-03	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	38017039	c.38G>A	p.G13D	Substitution - Missense	PATHOGENIC	.91084	Confirmed somatic variant	PMID: N/A	NS	13
NRAS	ENST00000369535	TL2191	testis	germ_cell_tumour	38017058	c.35G>A	p.G12D	Substitution - Missense	PATHOGENIC	.91067	Reported in another cancer sample as somatic	PMID: 7535083	primary	12
NRAS	ENST00000369535	1103531	skin	malignant_melanoma	38017058	c.35G>A	p.G12D	Substitution - Missense	PATHOGENIC	.91067	Reported in another cancer sample as somatic	PMID: 18227705	primary	12

Showing 1 to 20 of 4,066 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF00071	Ras	Ras family	5-165	CL0023	P-loop_NTPase	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Malignant Neoplasms	Neoplasms ;	0.42	0.69
Rectal Carcinoma	Neoplasms ; Digestive System Diseases ;	0.42	0.69
Malignant neoplasm of thyroid	N/A	0.42	0.69
Non-Small Cell Lung Carcinoma	Neoplasms ; Respiratory Tract Diseases ;	0.42	0.69
Hypertrophic Cardiomyopathy	Cardiovascular Diseases ;	0.42	0.69
Charcot-Marie-Tooth Disease	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.42	0.69
Colorectal Carcinoma	Neoplasms ; Digestive System Diseases ;	0.42	0.69
Colorectal Neoplasms	Neoplasms ; Digestive System Diseases ;	0.42	0.69
Cytopenia	N/A	0.42	0.69
Hydrocephalus	Nervous System Diseases ;	0.42	0.69
Hydrops Fetalis	Female Urogenital Diseases and Pregnancy Complications ; Hemic and Lymphatic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Immune System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.42	0.69
leukemia	Neoplasms ;	0.42	0.69
Leukemia, Myelocytic, Acute	Neoplasms ;	0.42	0.69
Myeloid Leukemia, Chronic	Neoplasms ; Hemic and Lymphatic Diseases ;	0.42	0.69
Leukemia, Myelomonocytic, Chronic	Neoplasms ; Hemic and Lymphatic Diseases ;	0.42	0.69
Acute Promyelocytic Leukemia	Neoplasms ;	0.42	0.69
Leukocytosis	Hemic and Lymphatic Diseases ; Pathological Conditions, Signs and Symptoms ;	0.42	0.69
Lymphoma	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.42	0.69
melanoma	Neoplasms ;	0.42	0.69
Multiple Myeloma	Neoplasms ; Cardiovascular Diseases ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.42	0.69
Acute Myeloid Leukemia, M1	Neoplasms ;	0.42	0.69
Myelomonocytic leukemia	N/A	0.42	0.69
Neoplasms, Experimental	Neoplasms ;	0.42	0.69
Neuroblastoma	Neoplasms ;	0.42	0.69
Noonan Syndrome	Musculoskeletal Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ;	0.42	0.69
Rectal Neoplasms	Neoplasms ; Digestive System Diseases ;	0.42	0.69
Splenomegaly	Pathological Conditions, Signs and Symptoms ;	0.42	0.69
Thyroid Neoplasm	Neoplasms ; Endocrine System Diseases ;	0.42	0.69
Turner Syndrome, Male	Musculoskeletal Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ;	0.42	0.69
B-Cell Lymphomas	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.42	0.69
Adenocarcinoma of rectum	N/A	0.42	0.69
Cutaneous Melanoma	Neoplasms ; Skin and Connective Tissue Diseases ;	0.42	0.69
Pleocytosis	Hemic and Lymphatic Diseases ; Pathological Conditions, Signs and Symptoms ;	0.42	0.69
Adenocarcinoma of lung (disorder)	Neoplasms ; Respiratory Tract Diseases ;	0.42	0.69
Congenital anemia	N/A	0.42	0.69
Follicular thyroid carcinoma	Neoplasms ;	0.42	0.69
Neurofibrosarcoma	Neoplasms ; Nervous System Diseases ;	0.42	0.69
Epithelioid and spindle cell nevus	Neoplasms ;	0.42	0.69
Papillary thyroid carcinoma	Neoplasms ; Endocrine System Diseases ;	0.42	0.69
Organoid Nevus Phakomatosis	Neoplasms ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.42	0.69
Gastric Adenocarcinoma	N/A	0.42	0.69
NEVUS, EPIDERMAL (disorder)	Neoplasms ;	0.42	0.69
Woolly hair nevus	N/A	0.42	0.69
Nevus spilus	N/A	0.42	0.69
Juvenile Myelomonocytic Leukemia	Neoplasms ; Hemic and Lymphatic Diseases ;	0.42	0.69
Verrucous epidermal nevus	Neoplasms ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.42	0.69
Inflammatory linear verrucous epidermal nevus	Neoplasms ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.42	0.69
Epileptic encephalopathy	N/A	0.42	0.69
Neurocutaneous melanosis	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ;	0.42	0.69
Thyroid carcinoma	Neoplasms ; Endocrine System Diseases ;	0.42	0.69
Congenital melanocytic nevus	N/A	0.42	0.69
Adenocarcinoma of large intestine	N/A	0.42	0.69
Autoimmune Lymphoproliferative Syndrome	Hemic and Lymphatic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Immune System Diseases ;	0.42	0.69
Colorectal Cancer	Neoplasms ; Digestive System Diseases ;	0.42	0.69
Female Pseudo-Turner Syndrome	Musculoskeletal Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ;	0.42	0.69
GIANT PIGMENTED HAIRY NEVUS	Neoplasms ; Skin and Connective Tissue Diseases ;	0.42	0.69
Autoimmune Lymphoproliferative Syndrome Type 2B	Hemic and Lymphatic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Immune System Diseases ;	0.42	0.69
Leukemia, Megakaryoblastic, of Down Syndrome	Neoplasms ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.42	0.69
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.42	0.69
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER	N/A	0.42	0.69
Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant	Hemic and Lymphatic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Immune System Diseases ;	0.42	0.69
Noonan Syndrome 6	Musculoskeletal Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ;	0.42	0.69
Thyroid cancer, follicular	Neoplasms ;	0.42	0.69
Linear Verrucous Epidermal Nevus	Neoplasms ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.42	0.69
Intellectual Disability	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.42	0.69
Nevus sebaceous	Neoplasms ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.42	0.69
Nevus, Keratinocytic, Nonepidermolytic	Neoplasms ;	0.42	0.69
THYROID CANCER, NONMEDULLARY, 2	N/A	0.42	0.69
NO RESULT FOUND

Description:	neuroblastoma ras oncogene [Source:MGI Symbol;Acc:MGI:97376]
Synonyms:	AV095280, N-ras
Other ID(s):	MGI:97376, ENSMUSG00000027852
Protein Accession Numbers:	XP_006501181, XP_006501186, XP_006501183, NP_035067, XP_006501185, XP_006501182, NP_001355567, XP_006501184
Statistics:	ClinVar(82) gnomAD(110) COSMIC(4066) PTM(13)

Classification of Clinicial Significance of ClinVar Data