SORL1 (GeneID: 6653) | Homo sapiens
Description: sortilin related receptor 1 [Source:HGNC Symbol;Acc:HGNC:11185]
Synonyms: LRP9, C11orf32, SORLA, LR11, orLA-1, gp250
Other ID(s): ENSG00000137642, HGNC:11185
Protein Accession Numbers: NP_003096, ENST00000527934, ENST00000260197, ENST00000534286, ENST00000525532, ENST00000532694, ENST00000260197.7
Statistics: gnomAD(1840) COSMIC(949) PTM(38)
Post translational modifications (PTM) by Type

∙ 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.
ENST00000260197 ENST00000525532 ENST00000527934 ENST00000532694 ENST00000534286 NP_003096


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
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.619 0.483
Malignant neoplasm of breast Neoplasms ; Skin and Connective Tissue Diseases ; 0.619 0.483
Cholestasis Digestive System Diseases ; 0.619 0.483
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.619 0.483
Hepatitis, Toxic Digestive System Diseases ; Chemically-Induced Disorders ; 0.619 0.483
Neoplasm Invasiveness Neoplasms ; Pathological Conditions, Signs and Symptoms ; 0.619 0.483
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.619 0.483
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.619 0.483
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.619 0.483
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.619 0.483
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.619 0.483
Drug-Induced Liver Disease Digestive System Diseases ; Chemically-Induced Disorders ; 0.619 0.483
Hepatitis, Drug-Induced Digestive System Diseases ; Chemically-Induced Disorders ; 0.619 0.483
Colorectal Cancer Neoplasms ; Digestive System Diseases ; 0.619 0.483
PRESENILE AND SENILE DEMENTIA Nervous System Diseases ; Mental Disorders ; 0.619 0.483
ALZHEIMER DISEASE, FAMILIAL, 1 Nervous System Diseases ; Mental Disorders ; 0.619 0.483
Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Nervous System Diseases ; Mental Disorders ; 0.619 0.483
ALZHEIMER DISEASE, PROTECTION AGAINST N/A 0.619 0.483
Drug-Induced Acute Liver Injury Digestive System Diseases ; Chemically-Induced Disorders ; 0.619 0.483
Chemical and Drug Induced Liver Injury Digestive System Diseases ; Chemically-Induced Disorders ; 0.619 0.483
Chemically-Induced Liver Toxicity Digestive System Diseases ; Chemically-Induced Disorders ; 0.619 0.483
NO RESULT FOUND
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