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NF1 (GeneID: 4763) | Homo sapiens
Description: neurofibromin 1 [Source:HGNC Symbol;Acc:HGNC:7765]
Synonyms: NFNS, WSS, VRNF
Other ID(s): ENSG00000196712, HGNC:7765
Protein Accession Numbers: ENST00000356175, ENST00000468273, ENST00000358273, NP_000258, ENST00000444181, ENST00000495910, ENST00000417592, ENST00000479536, NP_001121619, ENST00000466819, ENST00000581790, ENST00000431387, ENST00000489712, ENST00000471572, ENST00000358273.4, NP_001035957, ENST00000456735, ENST00000579081, ENST00000422121, ENST00000479614
Statistics: gnomAD(13)
gnomAD Variants By Annotation
62%15%8%15%10010090908080707060605050404030302020101000
Missense Variant
Stop Lost
Stop Retained Variant
Synonymous Variant
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∙ 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.
ENST00000356175 ENST00000358273 ENST00000417592 ENST00000422121 ENST00000431387 ENST00000444181 ENST00000456735 ENST00000466819 ENST00000468273 ENST00000471572 ENST00000479536 ENST00000479614 ENST00000489712 ENST00000495910 ENST00000579081 ENST00000581790 NP_000258 NP_001035957 NP_001121619


healinggnomAD
62%15%8%15%10010090908080707060605050404030302020101000
Missense Variant
Stop Lost
Stop Retained Variant
Synonymous Variant
Download SVG
Download PNG
Download CSV

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
PF00616 RasGAP GTPase-activator protein for Ras-like GTPase 1327-1453 CL0409 GAP Mus musculus
PF13716 CRAL_TRIO_2 Divergent CRAL/TRIO domain 1604-1738 CL0512 CRAL_TRIO Mus musculus

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Adenoma Neoplasms ; 0.458 0.724
Astrocytoma Neoplasms ; 0.458 0.724
Autistic Disorder Mental Disorders ; 0.458 0.724
Malignant neoplasm of breast Neoplasms ; Skin and Connective Tissue Diseases ; 0.458 0.724
Malignant Neoplasms Neoplasms ; 0.458 0.724
Cerebrovascular Disorders Nervous System Diseases ; Cardiovascular Diseases ; 0.458 0.724
Cytopenia N/A 0.458 0.724
Fibrosarcoma Neoplasms ; 0.458 0.724
Glioblastoma Neoplasms ; 0.458 0.724
Glioma Neoplasms ; 0.458 0.724
Hydrocephalus Nervous System Diseases ; 0.458 0.724
Profound Mental Retardation Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.458 0.724
Learning Disorders Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.458 0.724
leukemia Neoplasms ; 0.458 0.724
Leukemia, Myelocytic, Acute Neoplasms ; 0.458 0.724
liposarcoma Neoplasms ; 0.458 0.724
melanoma Neoplasms ; 0.458 0.724
Mental Retardation, Psychosocial Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.458 0.724
Acute Myeloid Leukemia, M1 Neoplasms ; 0.458 0.724
Neurilemmoma Neoplasms ; 0.458 0.724
neurofibroma Neoplasms ; Nervous System Diseases ; 0.458 0.724
Neurofibromatosis 1 Neoplasms ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.458 0.724
Melanocytic nevus Neoplasms ; 0.458 0.724
Pheochromocytoma Neoplasms ; 0.458 0.724
Cutaneous Melanoma Neoplasms ; Skin and Connective Tissue Diseases ; 0.458 0.724
Congenital anemia N/A 0.458 0.724
Neurofibromatoses Neoplasms ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.458 0.724
Adenoma, Basal Cell Neoplasms ; 0.458 0.724
Follicular adenoma Neoplasms ; 0.458 0.724
Adenoma, Microcystic Neoplasms ; 0.458 0.724
Adenoma, Monomorphic Neoplasms ; 0.458 0.724
Papillary adenoma Neoplasms ; 0.458 0.724
Adenoma, Trabecular Neoplasms ; 0.458 0.724
Subependymal Giant Cell Astrocytoma Neoplasms ; 0.458 0.724
Liposarcoma, Dedifferentiated Neoplasms ; 0.458 0.724
Liposarcoma, Pleomorphic Neoplasms ; 0.458 0.724
Sarcoma, Epithelioid Neoplasms ; 0.458 0.724
Sarcoma, Spindle Cell Neoplasms ; 0.458 0.724
Nerve Sheath Tumors Neoplasms ; Nervous System Diseases ; 0.458 0.724
mixed gliomas Neoplasms ; 0.458 0.724
Adult Malignant Peripheral Nerve Sheath Tumor N/A 0.458 0.724
Childhood Malignant Peripheral Nerve Sheath Tumor N/A 0.458 0.724
Juvenile Pilocytic Astrocytoma Neoplasms ; 0.458 0.724
Diffuse Astrocytoma Neoplasms ; 0.458 0.724
Anaplastic astrocytoma Neoplasms ; 0.458 0.724
Protoplasmic astrocytoma Neoplasms ; 0.458 0.724
Gemistocytic astrocytoma Neoplasms ; 0.458 0.724
Fibrillary Astrocytoma Neoplasms ; 0.458 0.724
Pilocytic Astrocytoma Neoplasms ; 0.458 0.724
Giant Cell Glioblastoma Neoplasms ; 0.458 0.724
Childhood Cerebral Astrocytoma Neoplasms ; 0.458 0.724
Juvenile Myelomonocytic Leukemia Neoplasms ; Hemic and Lymphatic Diseases ; 0.458 0.724
Hematologic Neoplasms Neoplasms ; Hemic and Lymphatic Diseases ; 0.458 0.724
Mixed oligoastrocytoma Neoplasms ; 0.458 0.724
Cafe-au-lait macules with pulmonary stenosis Neoplasms ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.458 0.724
Malignant Glioma Neoplasms ; 0.458 0.724
Cerebral Astrocytoma Neoplasms ; 0.458 0.724
Intracranial Astrocytoma Neoplasms ; 0.458 0.724
Adult Learning Disorders Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.458 0.724
Learning Disturbance Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.458 0.724
Learning Disabilities Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.458 0.724
Schwannomatosis, Plexiform Neoplasms ; 0.458 0.724
Peripheral Nerve Sheath Neoplasm Neoplasms ; Nervous System Diseases ; 0.458 0.724
Malignant Peripheral Nerve Sheath Tumor Neoplasms ; 0.458 0.724
Perineurioma Neoplasms ; Nervous System Diseases ; 0.458 0.724
Mental deficiency Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.458 0.724
Neurofibromatosis 3 Neoplasms ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.458 0.724
Malignant neoplasm of ovary Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ; 0.458 0.724
Pheochromocytoma, Extra-Adrenal Neoplasms ; 0.458 0.724
Sarcoma Neoplasms ; 0.458 0.724
Developmental Academic Disorder Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.458 0.724
Colorectal Cancer Neoplasms ; Digestive System Diseases ; 0.458 0.724
Glioblastoma Multiforme Neoplasms ; 0.458 0.724
Grade I Astrocytoma Neoplasms ; 0.458 0.724
NEUROFIBROMATOSIS, FAMILIAL SPINAL Neoplasms ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.458 0.724
Acute Myeloid Leukemia (AML-M2) Neoplasms ; 0.458 0.724
Neurofibromatosis-Noonan syndrome Neoplasms ; Musculoskeletal Diseases ; Nervous System Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.458 0.724
NF1 Microdeletion Syndrome Neoplasms ; Musculoskeletal Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.458 0.724
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.458 0.724
NO RESULT FOUND
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