CST3 (GeneID: 1471) | Homo sapiens
Description: cystatin C [Source:HGNC Symbol;Acc:HGNC:2475]
Synonyms: ARMD11, HEL-S-2
Other ID(s): HGNC:2475, ENSG00000101439
Protein Accession Numbers: ENST00000398409, ENST00000398411.1, ENST00000376925.3, NP_001275543, ENST00000398411, ENST00000376925, NP_000090
Statistics: ClinVar(16) gnomAD(627) COSMIC(128) PTM(1)
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.
ENST00000376925 You are here now! ENST00000398409 You are here now! ENST00000398411 You are here now! NP_000090 You are here now! NP_001275543 You are here now!


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
PF00031 Cystatin Cystatin domain 37-132 CL0121 Cystatin 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 ; 0.5 0.724
Cardiovascular Diseases Cardiovascular Diseases ; 0.5 0.724
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.5 0.724
Drug toxicity Chemically-Induced Disorders ; 0.5 0.724
Kidney Diseases Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.5 0.724
Kidney Failure, Acute Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.5 0.724
Leukemia, Myelocytic, Acute Neoplasms ; 0.5 0.724
Meningioma Neoplasms ; Nervous System Diseases ; 0.5 0.724
Acute Myeloid Leukemia, M1 Neoplasms ; 0.5 0.724
Oral Submucous Fibrosis Stomatognathic Diseases ; 0.5 0.724
Poisoning Chemically-Induced Disorders ; 0.5 0.724
Adverse reaction to drug Chemically-Induced Disorders ; 0.5 0.724
Meningiomas, Multiple Neoplasms ; Nervous System Diseases ; 0.5 0.724
Malignant Meningioma Neoplasms ; Nervous System Diseases ; 0.5 0.724
Familial Cerebral Amyloid Angiopathy Nervous System Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.5 0.724
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.5 0.724
Benign Meningioma Neoplasms ; Nervous System Diseases ; 0.5 0.724
Meningothelial meningioma Neoplasms ; Nervous System Diseases ; 0.5 0.724
Fibrous Meningioma Neoplasms ; Nervous System Diseases ; 0.5 0.724
Psammomatous Meningioma Neoplasms ; Nervous System Diseases ; 0.5 0.724
Angiomatous Meningioma Neoplasms ; Nervous System Diseases ; 0.5 0.724
Hemangioblastic Meningioma Neoplasms ; Nervous System Diseases ; 0.5 0.724
Hemangiopericytic Meningioma Neoplasms ; Nervous System Diseases ; 0.5 0.724
Transitional Meningioma Neoplasms ; Nervous System Diseases ; 0.5 0.724
Spinal Meningioma Neoplasms ; Nervous System Diseases ; 0.5 0.724
Intracranial Meningioma Neoplasms ; Nervous System Diseases ; 0.5 0.724
Clear Cell Meningioma Neoplasms ; Nervous System Diseases ; 0.5 0.724
Xanthomatous Meningioma Neoplasms ; Nervous System Diseases ; 0.5 0.724
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.5 0.724
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.5 0.724
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.5 0.724
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.5 0.724
Cerebral Convexity Meningioma Neoplasms ; Nervous System Diseases ; 0.5 0.724
Parasagittal Meningioma Neoplasms ; Nervous System Diseases ; 0.5 0.724
Intraorbital Meningioma Neoplasms ; Nervous System Diseases ; 0.5 0.724
Intraventricular Meningioma Neoplasms ; Nervous System Diseases ; 0.5 0.724
Olfactory Groove Meningioma Neoplasms ; Nervous System Diseases ; 0.5 0.724
Secretory meningioma Neoplasms ; Nervous System Diseases ; 0.5 0.724
Microcystic meningioma Neoplasms ; Nervous System Diseases ; 0.5 0.724
Cerebral Amyloid Angiopathy, Hereditary Nervous System Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.5 0.724
Angioblastic Meningioma Neoplasms ; Nervous System Diseases ; 0.5 0.724
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type Nervous System Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.5 0.724
Acute Kidney Insufficiency Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.5 0.724
Posterior Fossa Meningioma Neoplasms ; Nervous System Diseases ; 0.5 0.724
Sphenoid Wing Meningioma Neoplasms ; Nervous System Diseases ; 0.5 0.724
AMYOTROPHIC LATERAL SCLEROSIS 1 Nervous System Diseases ; Nutritional and Metabolic Diseases ; 0.5 0.724
Amyotrophic Lateral Sclerosis, Sporadic Nervous System Diseases ; Nutritional and Metabolic Diseases ; 0.5 0.724
Acute Myeloid Leukemia (AML-M2) Neoplasms ; 0.5 0.724
Cerebral Amyloid Angiopathy, Genetic Nervous System Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.5 0.724
Acute kidney injury Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.5 0.724
Age-Related Macular Degeneration type 11 Eye Diseases ; 0.5 0.724
Papillary Meningioma Neoplasms ; Nervous System Diseases ; 0.5 0.724
Periodic Fever Syndrome N/A 0.5 0.724
NO RESULT FOUND
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