AGRN (GeneID: 100609326) | Pan troglodytes
Description: agrin [Source:VGNC Symbol;Acc:VGNC:48969]
Synonyms:
Other ID(s): ENSPTRG00000022742
Protein Accession Numbers: XP_009452985
Statistics: ClinVar(915) PTM(48)
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.
ENST00000379370 ENST00000419249 NP_001292204 You are here now! 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 1333-1365 CL0001 EGF Homo sapiens
PF00008 EGF EGF-like domain 1553-1584 CL0001 EGF Homo sapiens
PF00050 Kazal_1 Kazal-type serine protease inhibitor domain 335-389 CL0005 Kazal Homo sapiens
PF00053 Laminin_EGF Laminin EGF domain 793-844 CL0001 EGF Homo sapiens
PF00053 Laminin_EGF Laminin EGF domain 847-901 CL0001 EGF Homo sapiens
PF00054 Laminin_G_1 Laminin G domain 1400-1531 CL0004 Concanavalin Homo sapiens
PF00054 Laminin_G_1 Laminin G domain 1920-2051 CL0004 Concanavalin Homo sapiens
PF00054 Laminin_G_1 Laminin G domain 1668-1803 CL0004 Concanavalin Homo sapiens
PF01390 SEA SEA domain 1132-1237 Homo sapiens
PF03146 NtA Agrin NtA domain 31-146 CL0353 TIMP-like Homo sapiens
PF07648 Kazal_2 Kazal-type serine protease inhibitor domain 489-534 CL0005 Kazal Homo sapiens
PF07648 Kazal_2 Kazal-type serine protease inhibitor domain 704-750 CL0005 Kazal Homo sapiens
PF07648 Kazal_2 Kazal-type serine protease inhibitor domain 197-242 CL0005 Kazal Homo sapiens
PF07648 Kazal_2 Kazal-type serine protease inhibitor domain 923-969 CL0005 Kazal Homo sapiens
PF07648 Kazal_2 Kazal-type serine protease inhibitor domain 552-599 CL0005 Kazal Homo sapiens
PF07648 Kazal_2 Kazal-type serine protease inhibitor domain 616-669 CL0005 Kazal Homo sapiens
PF07648 Kazal_2 Kazal-type serine protease inhibitor domain 270-317 CL0005 Kazal Homo sapiens
PF07648 Kazal_2 Kazal-type serine protease inhibitor domain 411-461 CL0005 Kazal Homo sapiens

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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