AGRN (GeneID: 375790) | Homo sapiens
Description: agrin [Source:HGNC Symbol;Acc:HGNC:329]
Synonyms: AGRIN, CMSPPD, CMS8
Other ID(s): ENSG00000188157, HGNC:329
Protein Accession Numbers: ENST00000379370.2, NP_001292204, ENST00000379370, NP_940978, ENST00000419249, NP_001351656
Statistics: gnomAD(369)
gnomAD Variants By Annotation

∙ 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.
ENST00000379370 ENST00000419249 NP_001292204 NP_001351656 NP_940978


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
PF00008 EGF EGF-like domain 1704-1737 CL0001 EGF Mus musculus
PF00008 EGF EGF-like domain 1215-1246 CL0001 EGF Mus musculus
PF00008 EGF EGF-like domain 1435-1466 CL0001 EGF Mus musculus
PF00050 Kazal_1 Kazal-type serine protease inhibitor domain 231-284 CL0005 Kazal Mus musculus
PF00053 Laminin_EGF Laminin EGF domain 688-739 CL0001 EGF Mus musculus
PF00053 Laminin_EGF Laminin EGF domain 742-796 CL0001 EGF Mus musculus
PF00054 Laminin_G_1 Laminin G domain 1282-1413 CL0004 Concanavalin Mus musculus
PF00054 Laminin_G_1 Laminin G domain 1802-1933 CL0004 Concanavalin Mus musculus
PF00054 Laminin_G_1 Laminin G domain 1550-1685 CL0004 Concanavalin Mus musculus
PF01390 SEA SEA domain 1016-1115 Mus musculus
PF07648 Kazal_2 Kazal-type serine protease inhibitor domain 599-645 CL0005 Kazal Mus musculus
PF07648 Kazal_2 Kazal-type serine protease inhibitor domain 384-429 CL0005 Kazal Mus musculus
PF07648 Kazal_2 Kazal-type serine protease inhibitor domain 89-137 CL0005 Kazal Mus musculus
PF07648 Kazal_2 Kazal-type serine protease inhibitor domain 511-559 CL0005 Kazal Mus musculus
PF07648 Kazal_2 Kazal-type serine protease inhibitor domain 818-864 CL0005 Kazal Mus musculus
PF07648 Kazal_2 Kazal-type serine protease inhibitor domain 446-494 CL0005 Kazal Mus musculus
PF07648 Kazal_2 Kazal-type serine protease inhibitor domain 163-212 CL0005 Kazal Mus musculus
PF07648 Kazal_2 Kazal-type serine protease inhibitor domain 306-356 CL0005 Kazal Mus musculus

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Arthrogryposis Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.735 0.31
Leukemia, Myelocytic, Acute Neoplasms ; 0.735 0.31
Acute Myeloid Leukemia, M1 Neoplasms ; 0.735 0.31
Myasthenic Syndromes, Congenital Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.735 0.31
Congenital Myasthenic Syndromes, Postsynaptic Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.735 0.31
Congenital Myasthenic Syndromes, Presynaptic Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.735 0.31
Myasthenic Syndromes, Congenital, Slow Channel Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.735 0.31
Acute Myeloid Leukemia (AML-M2) Neoplasms ; 0.735 0.31
MYASTHENIC SYNDROME, CONGENITAL, 8 N/A 0.735 0.31
NO RESULT FOUND
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