IGF1R (GeneID: 708227) | Macaca mulatta
Description: insulin like growth factor 1 receptor [Source:NCBI gene;Acc:708227]
Synonyms:
Other ID(s): ENSMMUG00000012305
Protein Accession Numbers: XP_014998605, NP_001248281
Statistics: ClinVar(183) gnomAD(1124) COSMIC(1279) PTM(38)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000268035 You are here now! ENST00000558355 ENST00000558762 ENST00000558898 ENST00000560144 ENST00000560972 NP_000866 You are here now! NP_001278787


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

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00757 Furin-like Furin-like cysteine rich region 175-333 CL0547 GF_recep_C-rich Homo sapiens
PF01030 Recep_L_domain Receptor L domain 352-466 CL0022 LRR Homo sapiens
PF01030 Recep_L_domain Receptor L domain 51-161 CL0022 LRR Homo sapiens
PF07714 PK_Tyr_Ser-Thr Protein tyrosine and serine/threonine kinase 999-1266 CL0016 PKinase Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.433 0.828
Malignant neoplasm of breast Neoplasms ; Skin and Connective Tissue Diseases ; 0.433 0.828
Malignant neoplasm of skin Neoplasms ; Skin and Connective Tissue Diseases ; 0.433 0.828
Neoplastic Cell Transformation Neoplasms ; Pathological Conditions, Signs and Symptoms ; 0.433 0.828
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.433 0.828
Endometrial Neoplasms Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; 0.433 0.828
Fetal Growth Retardation Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.433 0.828
Growth Disorders Pathological Conditions, Signs and Symptoms ; 0.433 0.828
Lung diseases Respiratory Tract Diseases ; 0.433 0.828
Osteogenesis Imperfecta Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.433 0.828
Parkinson Disease Nervous System Diseases ; 0.433 0.828
Peripheral Neuropathy Nervous System Diseases ; 0.433 0.828
Respiratory Insufficiency Respiratory Tract Diseases ; 0.433 0.828
Skin Neoplasms Neoplasms ; Skin and Connective Tissue Diseases ; 0.433 0.828
Juvenile-Onset Still Disease Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ; 0.433 0.828
Squamous cell carcinoma of lung N/A 0.433 0.828
Russell-Silver syndrome Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.433 0.828
Adrenocortical carcinoma Neoplasms ; Endocrine System Diseases ; 0.433 0.828
Respiratory Depression Respiratory Tract Diseases ; 0.433 0.828
Congenital diaphragmatic hernia Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.433 0.828
Congenital hernia of foramen of Morgagni Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.433 0.828
Congenital hernia of foramen of Bochdalek Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.433 0.828
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.433 0.828
Primary microcephaly N/A 0.433 0.828
Endometrial Carcinoma Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; 0.433 0.828
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.433 0.828
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.433 0.828
Breast Carcinoma Neoplasms ; Skin and Connective Tissue Diseases ; 0.433 0.828
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.433 0.828
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.433 0.828
Lewy Body Disease Nervous System Diseases ; Mental Disorders ; 0.433 0.828
Respiratory Failure Respiratory Tract Diseases ; 0.433 0.828
Mammary Neoplasms, Human Neoplasms ; Skin and Connective Tissue Diseases ; 0.433 0.828
Mammary Neoplasms Neoplasms ; Skin and Connective Tissue Diseases ; 0.433 0.828
Resistance to Insulin-Like Growth Factor I Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.433 0.828
Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein Pathological Conditions, Signs and Symptoms ; 0.433 0.828
Liver carcinoma Neoplasms ; Digestive System Diseases ; 0.433 0.828
Juvenile arthritis Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ; 0.433 0.828
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.433 0.828
Juvenile psoriatic arthritis Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ; 0.433 0.828
NO RESULT FOUND
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