ConVarT

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:	ClinVar(915) PTM(48)

ClinVar Pathogenicity of Variations

Benign

Conflicting

Pathogenic

VUS

∙ 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

ClinVar Data

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Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter
No data available in table

Showing 0 to 0 of 0 entries

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Post-translational Modifications (PTMs)

Acetylation

O-GalNAc

Phosphorylation

Ubiquitination

Show entries

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
AGRN	O00468	Phosphorylation	1159	S1159-p	PEMADPKsELFGEtA	217.32	23080295
AGRN	O00468	Phosphorylation	1165	T1165-p	KsELFGEtARSIEST	217.32	23080298
AGRN	O00468	Phosphorylation	123	Y123-p	FVNPAPPyLWPAHKN	217.32	34370580
AGRN	O00468	O-GalNAc	1274	T1274-ga	AGATARAttAsRLPs	217.32	27915310
AGRN	O00468	O-GalNAc	1275	T1275-ga	GATARAttAsRLPss	217.32	27915313
AGRN	O00468	Phosphorylation	1275	T1275-p	GATARAttAsRLPss	217.32	23080301
AGRN	O00468	O-GalNAc	1277	S1277-ga	TARAttAsRLPssAV	217.32	27915316
AGRN	O00468	O-GalNAc	1281	S1281-ga	ttAsRLPssAVtPRA	217.32	27912625
AGRN	O00468	O-GalNAc	1282	S1282-ga	tAsRLPssAVtPRAP	217.32	27912627
AGRN	O00468	O-GalNAc	1285	T1285-ga	RLPssAVtPRAPHPs	217.32	27912630
AGRN	O00468	O-GalNAc	1292	S1292-ga	tPRAPHPsHtsQPVA	217.32	27912344
AGRN	O00468	O-GalNAc	1294	T1294-ga	RAPHPsHtsQPVAKt	217.32	27912347
AGRN	O00468	O-GalNAc	1295	S1295-ga	APHPsHtsQPVAKtt	217.32	27912350
AGRN	O00468	O-GalNAc	1301	T1301-ga	tsQPVAKttAAPttR	217.32	27912353
AGRN	O00468	O-GalNAc	1302	T1302-ga	sQPVAKttAAPttRR	217.32	27912356
AGRN	O00468	O-GalNAc	1306	T1306-ga	AKttAAPttRRPPtt	217.32	27912359
AGRN	O00468	O-GalNAc	1307	T1307-ga	KttAAPttRRPPttA	217.32	27912362
AGRN	O00468	O-GalNAc	1312	T1312-ga	PttRRPPttAPsRVP	217.32	27912008
AGRN	O00468	O-GalNAc	1313	T1313-ga	ttRRPPttAPsRVPG	217.32	27912011
AGRN	O00468	O-GalNAc	1316	S1316-ga	RPPttAPsRVPGRRP	217.32	27912014

Showing 1 to 20 of 48 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position

dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
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

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
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

Classification of Clinicial Significance of ClinVar Data