ConVarT

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	Filter
8-143694445-C-T	ENST00000356613	p.Glu396Glu	Synonymous Variant	0	0	0	rs1403526214
8-143694447-C-T	ENST00000356613	p.Glu396Lys	Missense Variant	0	0	0	rs1466856033
8-143694448-G-A	ENST00000356613	p.Pro395Pro	Synonymous Variant	0	0	0	rs745312968
8-143694449-G-A	ENST00000356613	p.Pro395Leu	Missense Variant	0	0	0	rs769495014
8-143694450-G-T	ENST00000356613	p.Pro395Thr	Missense Variant	0	0	0	rs917971005
8-143694452-T-C	ENST00000356613	p.Gln394Arg	Missense Variant	0	0	0	rs1276499964
8-143694457-C-G	ENST00000356613	p.Arg392Arg	Synonymous Variant	1	31338	0.000032	rs1219143287
8-143694458-C-G	ENST00000356613	p.Arg392Pro	Missense Variant	0	0	0	rs775336464
8-143694458-C-T	ENST00000356613	p.Arg392Gln	Missense Variant	0	0	0	rs775336464
8-143694459-G-A	ENST00000356613	p.Arg392Trp	Missense Variant	0	0	0	rs762668132
8-143694466-G-A	ENST00000356613	p.Ala389Ala	Synonymous Variant	0	0	0	rs769181082
8-143694468-C-G	ENST00000356613	p.Ala389Pro	Missense Variant	1	31346	0.000032	rs1320277133	RF
8-143694468-C-T	ENST00000356613	p.Ala389Thr	Missense Variant	1	31346	0.000032	rs1320277133	RF
8-143694469-C-T	ENST00000356613	p.Val388Val	Synonymous Variant	0	0	0	rs1199444241
8-143694471-C-T	ENST00000356613	p.Val388Met	Missense Variant	0	0	0	rs774812713
8-143694472-G-A	ENST00000356613	p.Ser387Ser	Synonymous Variant	0	0	0	rs773030926
8-143694475-C-G	ENST00000356613	p.Glu386Asp	Missense Variant	0	0	0	rs1224200466
8-143694477-C-T	ENST00000356613	p.Glu386Lys	Missense Variant	0	0	0	rs1247856381
8-143694478-G-A	ENST00000356613	p.Ser385Ser	Synonymous Variant	1	31344	0.000032	rs767852123
8-143694479-C-T	ENST00000356613	p.Ser385Asn	Missense Variant	0	0	0	rs1198142862

Showing 1 to 20 of 349 entries

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Post-translational Modifications (PTMs)

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
ARC	Q7LC44	Phosphorylation	274	Y274-p	FKKEFLQySEGTLSR	45.32	7331444
ARC	Q7LC44	Ubiquitination	55	K55-ub	HLLAEVSkQVERELK	45.32	21129196
ARC	Q7LC44	Ubiquitination	70	K70-ub	GLHRSVGkLESNLDG	45.32	603484608

Showing 1 to 3 of 3 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

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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
ARC	ENST00000356613	TCGA-EE-A3AG-06	skin	malignant_melanoma	33581350	c.1110C>A	p.L370=	Substitution - coding silent	NEUTRAL	.094	Confirmed somatic variant	PMID: N/A	NS	370
ARC	ENST00000356613	FFPE-4	pancreas	carcinoma	33581980	c.926A>G	p.Y309C	Substitution - Missense	PATHOGENIC	.78699	Confirmed somatic variant	PMID: 29109526	primary	309
ARC	ENST00000356613	389	oesophagus	carcinoma	33580929	c.413C>T	p.P138L	Substitution - Missense	NEUTRAL	.29918	Confirmed somatic variant	PMID: 25151357	primary	138
ARC	ENST00000356613	S0045	large_intestine	other	33581450	c.538G>A	p.A180T	Substitution - Missense	NEUTRAL	.0856	Confirmed somatic variant	PMID: 27245685	metastasis	180
ARC	ENST00000356613	GCTK_304_T	stomach	carcinoma	33581601	c.158T>G	p.V53G	Substitution - Missense	PATHOGENIC	.7783	Confirmed somatic variant	PMID: N/A	primary	53
ARC	ENST00000356613	STC252	stomach	carcinoma	33581314	c.696C>T	p.G232=	Substitution - coding silent	NEUTRAL	.02836	Confirmed somatic variant	PMID: 25042771	primary	232
ARC	ENST00000356613	GBM20-R3	central_nervous_system	glioma	33581006	c.1146C>T	p.A382=	Substitution - coding silent	NEUTRAL	.24171	Confirmed somatic variant	PMID: 28263318	recurrent	382
ARC	ENST00000356613	Pat_73_B	NS	malignant_melanoma	33581126	c.334G>A	p.E112K	Substitution - Missense	PATHOGENIC	.87468	Confirmed somatic variant	PMID: 24265153	NS	112
ARC	ENST00000356613	TCGA-B5-A11N-01	endometrium	carcinoma	33580781	c.856C>A	p.R286S	Substitution - Missense		.54686	Reported in another cancer sample as somatic	PMID: N/A	primary	286
ARC	ENST00000356613	11M	skin	malignant_melanoma	33581890	c.1176G>A	p.R392=	Substitution - coding silent	PATHOGENIC	.86824	Confirmed somatic variant	PMID: 26343386	NS	392
ARC	ENST00000356613	5-VS056-T1	skin	carcinoma	33581746	c.418G>A	p.G140S	Substitution - Missense	NEUTRAL	.17653	Confirmed somatic variant	PMID: 26950094	NS	140
ARC	ENST00000356613	H1573	lung	carcinoma	33581297	c.288C>G	p.C96W	Substitution - Missense		.62393	Variant of unknown origin	PMID: 29681454	NS	96
ARC	ENST00000356613	EXTERN_MELA_20140924_013	skin	malignant_melanoma	33581301	c.958G>A	p.E320K	Substitution - Missense	PATHOGENIC	.7609	Confirmed somatic variant	PMID: 28467829	primary	320
ARC	ENST00000356613	869586	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	33581309	c.759G>C	p.W253C	Substitution - Missense	PATHOGENIC	.85037	Confirmed somatic variant	PMID: 22237025	primary	253
ARC	ENST00000356613	CAL33	upper_aerodigestive_tract	carcinoma	33580233	c.866A>C	p.D289A	Substitution - Missense		.68257	Variant of unknown origin	PMID: 25275298	NS	289
ARC	ENST00000356613	TCGA-AA-3492-01	large_intestine	carcinoma	33581572	c.932C>T	p.T311M	Substitution - Missense	PATHOGENIC	.86178	Confirmed somatic variant	PMID: N/A	NS	311
ARC	ENST00000356613	HCC110T	liver	carcinoma	33580628	c.*1195G>T	p.?	Unknown	NEUTRAL	.1637	Variant of unknown origin	PMID: N/A	primary	0
ARC	ENST00000356613	TCGA-D1-A163-01	endometrium	carcinoma	33581553	c.1034T>C	p.L345P	Substitution - Missense	PATHOGENIC	.85472	Confirmed somatic variant	PMID: N/A	primary	345
ARC	ENST00000356613	GCTK_349_T	stomach	carcinoma	33581132	c.1144G>A	p.A382T	Substitution - Missense	NEUTRAL	.41493	Confirmed somatic variant	PMID: N/A	primary	382
ARC	ENST00000356613	TCGA-CD-8527-01	stomach	carcinoma	33580762	c.916C>T	p.R306W	Substitution - Missense		.55429	Confirmed somatic variant	PMID: N/A	NS	306

Showing 1 to 20 of 175 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Organism
NO RESULT FOUND
PF18162	Arc_C	Arc C-lobe	278-360	Homo sapiens
PF19284	Arc_MA	Arc MA domain	46-154	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Alcoholic Intoxication, Chronic	Chemically-Induced Disorders ; Mental Disorders ;	0.636	0.517
Alzheimer's Disease	Nervous System Diseases ; Mental Disorders ;	0.636	0.517
Cocaine Abuse	Chemically-Induced Disorders ; Mental Disorders ;	0.636	0.517
Presenile dementia	Nervous System Diseases ; Mental Disorders ;	0.636	0.517
Movement Disorders	Nervous System Diseases ;	0.636	0.517
Schizophrenia	Mental Disorders ;	0.636	0.517
Cocaine-Related Disorders	Chemically-Induced Disorders ; Mental Disorders ;	0.636	0.517
Etat Marbre	Nervous System Diseases ;	0.636	0.517
Familial Alzheimer Disease (FAD)	Nervous System Diseases ; Mental Disorders ;	0.636	0.517
Alzheimer Disease, Late Onset	Nervous System Diseases ; Mental Disorders ;	0.636	0.517
Acute Confusional Senile Dementia	Nervous System Diseases ; Mental Disorders ;	0.636	0.517
Cocaine Dependence	Chemically-Induced Disorders ; Mental Disorders ;	0.636	0.517
Alzheimer's Disease, Focal Onset	Nervous System Diseases ; Mental Disorders ;	0.636	0.517
Alzheimer Disease, Early Onset	Nervous System Diseases ; Mental Disorders ;	0.636	0.517
NO RESULT FOUND

Description:	activity regulated cytoskeleton associated protein [Source:VGNC Symbol;Acc:VGNC:11957]
Synonyms:
Other ID(s):	ENSPTRG00000030920
Protein Accession Numbers:	XP_016815455
Statistics:	ClinVar(2) gnomAD(349) COSMIC(175) PTM(3)

Classification of Clinicial Significance of ClinVar Data