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

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter
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Post-translational Modifications (PTMs)

Acetylation

Phosphorylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
PTPN11	Q06124	Ubiquitination	120	K120-ub	FHGHLSGkEAEkLLT	68.44	964544628
PTPN11	Q06124	Ubiquitination	124	K124-ub	LSGkEAEkLLTEKGk	68.44	603486086
PTPN11	Q06124	Ubiquitination	131	K131-ub	kLLTEKGkHGSFLVR	68.44	964544630
PTPN11	Q06124	Phosphorylation	142	S142-p	FLVRESQsHPGDFVL	68.44	27458512
PTPN11	Q06124	Phosphorylation	153	T153-p	DFVLSVRtGDDKGES	68.44	23144280
PTPN11	Q06124	Phosphorylation	165	S165-p	GESNDGKsKVTHVMI	68.44	23144277
PTPN11	Q06124	Acetylation	178	K178-ac	MIRCQELkyDVGGGE	68.44	15296186
PTPN11	Q06124	Phosphorylation	179	Y179-p	IRCQELkyDVGGGER	68.44	23144286
PTPN11	Q06124	Phosphorylation	189	S189-p	GGGERFDsLTDLVEH	68.44	27458516
PTPN11	Q06124	Ubiquitination	198	K198-ub	TDLVEHYkKNPMVET	68.44	964544632
PTPN11	Q06124	Acetylation	198	K198-ac	TDLVEHYkKNPMVET	68.44	11318323
PTPN11	Q06124	Ubiquitination	235	K235-ub	SRVRELSkLAETTDk	68.44	964544634
PTPN11	Q06124	Ubiquitination	242	K242-ub	kLAETTDkVkQGFWE	68.44	964544636
PTPN11	Q06124	Ubiquitination	244	K244-ub	AETTDkVkQGFWEEF	68.44	964544638
PTPN11	Q06124	Ubiquitination	260	K260-ub	TLQQQECkLLysRKE	68.44	964544640
PTPN11	Q06124	Phosphorylation	263	Y263-p	QQECkLLysRKEGQR	68.44	458568
PTPN11	Q06124	Phosphorylation	264	S264-p	QECkLLysRKEGQRQ	68.44	22778106
PTPN11	Q06124	Acetylation	274	K274-ac	EGQRQENkNkNRykN	68.44	9263041
PTPN11	Q06124	Acetylation	276	K276-ac	QRQENkNkNRykNIL	68.44	9263046
PTPN11	Q06124	Phosphorylation	279	Y279-p	ENkNkNRykNILPFD	68.44	474206

Showing 1 to 20 of 53 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

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

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
PF00017	SH2	SH2 domain	112-197	CL0541	SH2-like	Homo sapiens
PF00017	SH2	SH2 domain	6-81	CL0541	SH2-like	Homo sapiens
PF00102	Y_phosphatase	Protein-tyrosine phosphatase	273-520	CL0031	Phosphatase	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Adenocarcinoma	Neoplasms ;	0.429	0.828
Astrocytoma	Neoplasms ;	0.429	0.828
Squamous cell carcinoma	Neoplasms ;	0.429	0.828
Hypertrophic Cardiomyopathy	Cardiovascular Diseases ;	0.429	0.828
Charcot-Marie-Tooth Disease	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.429	0.828
Cytopenia	N/A	0.429	0.828
Enchondromatosis	Musculoskeletal Diseases ;	0.429	0.828
Hereditary Multiple Exostoses	Neoplasms ; Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.429	0.828
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 ;	0.429	0.828
leukemia	Neoplasms ;	0.429	0.828
Leukemia, Myelocytic, Acute	Neoplasms ;	0.429	0.828
Leukemia, Myelomonocytic, Chronic	Neoplasms ; Hemic and Lymphatic Diseases ;	0.429	0.828
Maffucci Syndrome	Musculoskeletal Diseases ;	0.429	0.828
Acute Myeloid Leukemia, M1	Neoplasms ;	0.429	0.828
Myelomonocytic leukemia	N/A	0.429	0.828
Neuroblastoma	Neoplasms ;	0.429	0.828
Neurofibromatosis 1	Neoplasms ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.429	0.828
Noonan Syndrome	Musculoskeletal Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ;	0.429	0.828
Cartilaginous exostosis	Neoplasms ; Musculoskeletal Diseases ;	0.429	0.828
Osteogenesis Imperfecta	Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ;	0.429	0.828
Turner Syndrome, Male	Musculoskeletal Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ;	0.429	0.828
Congenital anemia	N/A	0.429	0.828
LEOPARD Syndrome	Musculoskeletal Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ;	0.429	0.828
Adenocarcinoma, Basal Cell	Neoplasms ;	0.429	0.828
Adenocarcinoma, Oxyphilic	Neoplasms ;	0.429	0.828
Carcinoma, Cribriform	Neoplasms ;	0.429	0.828
Carcinoma, Granular Cell	Neoplasms ;	0.429	0.828
Adenocarcinoma, Tubular	Neoplasms ;	0.429	0.828
Subependymal Giant Cell Astrocytoma	Neoplasms ;	0.429	0.828
Multiple pterygium syndrome	Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; Pathological Conditions, Signs and Symptoms ;	0.429	0.828
Juvenile Pilocytic Astrocytoma	Neoplasms ;	0.429	0.828
Diffuse Astrocytoma	Neoplasms ;	0.429	0.828
Anaplastic astrocytoma	Neoplasms ;	0.429	0.828
Protoplasmic astrocytoma	Neoplasms ;	0.429	0.828
Gemistocytic astrocytoma	Neoplasms ;	0.429	0.828
Fibrillary Astrocytoma	Neoplasms ;	0.429	0.828
Pilocytic Astrocytoma	Neoplasms ;	0.429	0.828
Childhood Cerebral Astrocytoma	Neoplasms ;	0.429	0.828
Juvenile Myelomonocytic Leukemia	Neoplasms ; Hemic and Lymphatic Diseases ;	0.429	0.828
Hematologic Neoplasms	Neoplasms ; Hemic and Lymphatic Diseases ;	0.429	0.828
Metachondromatosis	Neoplasms ; Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.429	0.828
Mixed oligoastrocytoma	Neoplasms ;	0.429	0.828
Costello syndrome (disorder)	Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.429	0.828
Cerebral Astrocytoma	Neoplasms ;	0.429	0.828
Intracranial Astrocytoma	Neoplasms ;	0.429	0.828
Cardio-facio-cutaneous syndrome	Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; Pathological Conditions, Signs and Symptoms ;	0.429	0.828
Female Pseudo-Turner Syndrome	Musculoskeletal Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ;	0.429	0.828
Neurodevelopmental Disorders	Mental Disorders ;	0.429	0.828
Grade I Astrocytoma	Neoplasms ;	0.429	0.828
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.429	0.828
MYELODYSPLASTIC SYNDROME	Hemic and Lymphatic Diseases ;	0.429	0.828
Intellectual Disability	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.429	0.828
NO RESULT FOUND

Description:	protein tyrosine phosphatase, non-receptor type 11 [Source:NCBI gene;Acc:712044]
Synonyms:	SHP2
Other ID(s):	ENSMMUG00000013253
Protein Accession Numbers:	XP_015008322, NP_001248038
Statistics:	ClinVar(346) PTM(53)

Classification of Clinicial Significance of ClinVar Data