SNCA (GeneID: 6622) | Homo sapiens
Description: synuclein alpha [Source:HGNC Symbol;Acc:HGNC:11138]
Synonyms: PD1, NACP, PARK4, PARK1
Other ID(s): HGNC:11138, ENSG00000145335
Protein Accession Numbers: ENST00000336904, ENST00000505199, NP_001362215, ENST00000394991, NP_001139526, ENST00000394986, ENST00000506691, NP_001362217, ENST00000502987, NP_001362214, ENST00000394989, NP_000336, NP_009292, ENST00000345009, ENST00000506244, NP_001362216, ENST00000420646, NP_001139527, ENST00000394986.1, ENST00000508895, NP_001362219
Statistics: ClinVar(21) gnomAD(154) COSMIC(685)
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.
ENST00000336904 ENST00000345009 You are here now! ENST00000394986 ENST00000394989 ENST00000394991 ENST00000420646 You are here now! ENST00000502987 ENST00000505199 ENST00000506244 ENST00000506691 ENST00000508895 NP_000336 NP_001139526 NP_001139527 NP_001362214 NP_001362215 NP_001362216 NP_001362217 NP_001362219 NP_009292 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
NO DOMAINS EXIST

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Alcohol Use Disorder Chemically-Induced Disorders ; Mental Disorders ; 0.513 0.793
Alcoholic Intoxication, Chronic Chemically-Induced Disorders ; Mental Disorders ; 0.513 0.793
Cocaine Abuse Chemically-Induced Disorders ; Mental Disorders ; 0.513 0.793
Gaucher Disease Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.513 0.793
Hepatolenticular Degeneration Digestive System Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.513 0.793
Lameness, Animal Animal Diseases ; 0.513 0.793
Nerve Degeneration Pathological Conditions, Signs and Symptoms ; 0.513 0.793
Parkinson Disease Nervous System Diseases ; 0.513 0.793
Psychoses, Drug Chemically-Induced Disorders ; Mental Disorders ; 0.513 0.793
Psychoses, Substance-Induced Chemically-Induced Disorders ; Mental Disorders ; 0.513 0.793
Alcohol abuse Chemically-Induced Disorders ; Mental Disorders ; 0.513 0.793
Amphetamine-Related Disorders Chemically-Induced Disorders ; Mental Disorders ; 0.513 0.793
Cocaine-Related Disorders Chemically-Induced Disorders ; Mental Disorders ; 0.513 0.793
Amphetamine Addiction Chemically-Induced Disorders ; Mental Disorders ; 0.513 0.793
Amphetamine Abuse Chemically-Induced Disorders ; Mental Disorders ; 0.513 0.793
Parkinsonian Disorders Nervous System Diseases ; 0.513 0.793
Ramsay Hunt Paralysis Syndrome Nervous System Diseases ; 0.513 0.793
Gaucher Disease, Type 2 (disorder) Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.513 0.793
Gaucher Disease, Type 3 (disorder) Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.513 0.793
Degenerative Diseases, Central Nervous System Nervous System Diseases ; 0.513 0.793
Neurodegenerative Disorders Nervous System Diseases ; 0.513 0.793
Cocaine Dependence Chemically-Induced Disorders ; Mental Disorders ; 0.513 0.793
Manganese Poisoning Nervous System Diseases ; Chemically-Induced Disorders ; 0.513 0.793
Degenerative Diseases, Spinal Cord Nervous System Diseases ; 0.513 0.793
Autosomal Dominant Juvenile Parkinson Disease Nervous System Diseases ; 0.513 0.793
Autosomal Dominant Parkinsonism Nervous System Diseases ; 0.513 0.793
Autosomal Recessive Parkinsonism Nervous System Diseases ; 0.513 0.793
Parkinsonism, Experimental Nervous System Diseases ; 0.513 0.793
Familial Juvenile Parkinsonism Nervous System Diseases ; 0.513 0.793
Parkinsonism, Juvenile Nervous System Diseases ; 0.513 0.793
Lewy Body Disease Nervous System Diseases ; Mental Disorders ; 0.513 0.793
Hepatic Form of Wilson Disease Digestive System Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.513 0.793
PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE (disorder) Nervous System Diseases ; Eye Diseases ; 0.513 0.793
Diffuse Lewy Body Disease with Gaze Palsy Nervous System Diseases ; Eye Diseases ; Mental Disorders ; 0.513 0.793
Lewy Body Variant of Alzheimer Disease Nervous System Diseases ; Mental Disorders ; 0.513 0.793
PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY (disorder) Nervous System Diseases ; Mental Disorders ; 0.513 0.793
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) N/A 0.513 0.793
Atypical Parkinson Disease Nervous System Diseases ; 0.513 0.793
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE Nervous System Diseases ; 0.513 0.793
Gaucher Disease, Type 1 Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.513 0.793
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.513 0.793
Autosomal dominant late onset Parkinson disease N/A 0.513 0.793
Young onset Parkinson disease N/A 0.513 0.793
NO RESULT FOUND
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