ConVarT

ClinVar Data

Show entries

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

gnomAD

Frameshift Variant

Inframe Deletion

Missense Variant

Splice Acceptor Variant

Splice Region Variant

Stop Gained

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
12-27486011-G-T	ENST00000311001	p.Ala2Ala	Synonymous Variant	4	30174	0.000133	rs1405075850
12-27486032-G-A	ENST00000311001	p.Ala9Ala	Synonymous Variant	0	0	0	rs1450255344
12-27486033-G-A	ENST00000311001	p.Gly10Arg	Missense Variant	0	0	0	rs1299560858
12-27486035-A-G	ENST00000311001	p.Gly10Gly	Splice Region Variant	0	0	0	rs999767942
12-27521194-GGTAAAGTGTTGAGAGAGGAGAACCAGTGCATTGCTCCTGTGGTTTCCAGCCGCGTGA-G	ENST00000311001	p.Lys12_Ser30del	Inframe Deletion	0	0	0
12-27521195-G-A	ENST00000311001	p.Gly11Asp	Missense Variant	0	0	0	rs753093730
12-27521195-G-T	ENST00000311001	p.Gly11Val	Missense Variant	0	0	0	rs753093730
12-27521199-A-T	ENST00000311001	p.Lys12Asn	Missense Variant	0	0	0	rs778140306
12-27521206-A-G	ENST00000311001	p.Arg15Gly	Missense Variant	0	0	0	rs747557000
12-27521209-G-A	ENST00000311001	p.Glu16Lys	Missense Variant	0	0	0	rs770859056
12-27521210-A-T	ENST00000311001	p.Glu16Val	Missense Variant	0	0	0	rs781272646
12-27521212-G-A	ENST00000311001	p.Glu17Lys	Missense Variant	0	0	0	rs746050396
12-27521212-G-C	ENST00000311001	p.Glu17Gln	Missense Variant	1	31394	0.000032	rs746050396
12-27521216-A-G	ENST00000311001	p.Asn18Ser	Missense Variant	0	0	0	rs1369099044
12-27521227-G-A	ENST00000311001	p.Ala22Thr	Missense Variant	0	0	0	rs769981079
12-27521227-G-T	ENST00000311001	p.Ala22Ser	Missense Variant	0	0	0	rs769981079
12-27521229-T-C	ENST00000311001	p.Ala22Ala	Synonymous Variant	0	0	0	rs1282109340
12-27521232-T-C	ENST00000311001	p.Pro23Pro	Synonymous Variant	0	0	0	rs761507200
12-27521242-A-G	ENST00000311001	p.Ser27Gly	Missense Variant	0	0	0	rs771903769
12-27521244-C-T	ENST00000311001	p.Ser27Ser	Synonymous Variant	1	31374	0.000032	rs1269111691

Showing 1 to 20 of 488 entries

Previous1 2 3 4 5…25Next

Post-translational Modifications (PTMs)

Acetylation

Phosphorylation

Show entries

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
ARNTL2	Q8WYA1	Phosphorylation	148	T148-p	ARKLDKLtVLRMAVQ	70.89	23083945
ARNTL2	Q8WYA1	Acetylation	203	K203-ac	VVGCERGkILFVsks	70.89	3986605
ARNTL2	Q8WYA1	Phosphorylation	208	S208-p	RGkILFVsksVskIL	70.89	11078940
ARNTL2	Q8WYA1	Acetylation	209	K209-ac	GkILFVsksVskILN	70.89	3986610
ARNTL2	Q8WYA1	Phosphorylation	210	S210-p	kILFVsksVskILNY	70.89	11078945
ARNTL2	Q8WYA1	Phosphorylation	212	S212-p	LFVsksVskILNYDQ	70.89	11078950
ARNTL2	Q8WYA1	Acetylation	213	K213-ac	FVsksVskILNYDQA	70.89	3986615
ARNTL2	Q8WYA1	Phosphorylation	245	S245-p	KVKEQLSsFDISPRE	70.89	25283422
ARNTL2	Q8WYA1	Acetylation	304	K304-ac	HGCLPNSkKkEHRKF	70.89	15293524
ARNTL2	Q8WYA1	Acetylation	306	K306-ac	CLPNSkKkEHRKFYT	70.89	15293527
ARNTL2	Q8WYA1	Phosphorylation	539	S539-p	SSSYLDDssPTGLMK	70.89	25283418
ARNTL2	Q8WYA1	Phosphorylation	540	S540-p	SSYLDDssPTGLMKD	70.89	25283424
ARNTL2	Q8WYA1	Phosphorylation	55	S55-p	FPRKRKGsDSDPSQS	70.89	54413363

Showing 1 to 13 of 13 entries

Previous1Next

Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Insertion - Frameshift

Nonstop Extension

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

Show entries

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
ARNTL2_ENST00000311001	ENST00000311001	467	oesophagus	carcinoma	25043981	c.453T>A	p.N151K	Substitution - Missense	PATHOGENIC	.77719	Confirmed somatic variant	PMID: 25151357	primary	151
ARNTL2_ENST00000311001	ENST00000311001	PCSI_0082_Pa_P_526	pancreas	carcinoma	25042465	c.523-57C>T	p.?	Unknown	NEUTRAL	.00056	Confirmed somatic variant	PMID: N/A	NS	0
ARNTL2_ENST00000311001	ENST00000311001	LP6008141-DNA_H01	oesophagus	carcinoma	25044795	c.32-2134G>A	p.?	Unknown	NEUTRAL	.00508	Confirmed somatic variant	PMID: N/A	primary	0
ARNTL2_ENST00000311001	ENST00000311001	TCGA-EE-A2GK-06	skin	malignant_melanoma	25040256	c.273C>A	p.S91=	Substitution - coding silent	NEUTRAL	.19879	Confirmed somatic variant	PMID: N/A	NS	91
ARNTL2_ENST00000311001	ENST00000311001	TCGA-33-4587-01	lung	carcinoma	25044599	c.523-2A>G	p.?	Unknown	PATHOGENIC	.98191	Confirmed somatic variant	PMID: N/A	NS	0
ARNTL2_ENST00000311001	ENST00000311001	PD11396a	breast	carcinoma	25040173	c.1544+3741G>A	p.?	Unknown	NEUTRAL	.00203	Confirmed somatic variant	PMID: N/A	NS	0
ARNTL2_ENST00000311001	ENST00000311001	EXTERN_MELA_20140924_023	skin	malignant_melanoma	25045307	c.1260C>T	p.S420=	Substitution - coding silent		.66462	Confirmed somatic variant	PMID: 28467829	metastasis	420
ARNTL2_ENST00000311001	ENST00000311001	GBM20-R3	central_nervous_system	glioma	25041073	c.1111G>A	p.D371N	Substitution - Missense	PATHOGENIC	.99481	Confirmed somatic variant	PMID: 28263318	recurrent	371
ARNTL2_ENST00000311001	ENST00000311001	CRC-12T	large_intestine	carcinoma	25041449	c.285-3986G>C	p.?	Unknown		.54697	Confirmed somatic variant	PMID: N/A	primary	0
ARNTL2_ENST00000311001	ENST00000311001	YYY-549T	stomach	carcinoma	25041171	c.523-27A>G	p.?	Unknown	NEUTRAL	.03104	Confirmed somatic variant	PMID: N/A	primary	0
ARNTL2_ENST00000311001	ENST00000311001	PD23558a	breast	carcinoma	25044046	c.1376+147A>C	p.?	Unknown	NEUTRAL	.0603	Confirmed somatic variant	PMID: N/A	NS	0
ARNTL2_ENST00000311001	ENST00000311001	RK101_C01	liver	carcinoma	25044133	c.32-3883T>A	p.?	Unknown	NEUTRAL	.00706	Confirmed somatic variant	PMID: N/A	NS	0
ARNTL2_ENST00000311001	ENST00000311001	LP6005500-DNA_G02	oesophagus	carcinoma	25040461	c.32-1822C>T	p.?	Unknown	NEUTRAL	.01071	Confirmed somatic variant	PMID: N/A	primary	0
ARNTL2_ENST00000311001	ENST00000311001	PD23558a	breast	carcinoma	25044030	c.31+1519T>G	p.?	Unknown	NEUTRAL	.05078	Confirmed somatic variant	PMID: N/A	NS	0
ARNTL2_ENST00000311001	ENST00000311001	PD23558a	breast	carcinoma	25044036	c.31+1520C>A	p.?	Unknown	NEUTRAL	.06242	Confirmed somatic variant	PMID: N/A	NS	0
ARNTL2_ENST00000311001	ENST00000311001	PD23558a	breast	carcinoma	25044041	c.284+3846G>A	p.?	Unknown	NEUTRAL	.00383	Confirmed somatic variant	PMID: N/A	NS	0
ARNTL2_ENST00000311001	ENST00000311001	EXTERN_MELA_20140924_013	skin	malignant_melanoma	25042808	c.441A>C	p.K147N	Substitution - Missense	PATHOGENIC	.84356	Confirmed somatic variant	PMID: 28467829	primary	147
ARNTL2_ENST00000311001	ENST00000311001	CHG-91T	liver	other	25044085	c.733+5G>T	p.?	Unknown	PATHOGENIC	.72233	Confirmed somatic variant	PMID: N/A	primary	0
ARNTL2_ENST00000311001	ENST00000311001	CHG-91T	liver	other	25044088	c.1623+19G>T	p.?	Unknown	NEUTRAL	.25929	Confirmed somatic variant	PMID: N/A	primary	0
ARNTL2_ENST00000311001	ENST00000311001	ZLH-121T	stomach	carcinoma	25040766	c.1545-5207G>T	p.?	Unknown	NEUTRAL	.0051	Confirmed somatic variant	PMID: N/A	primary	0

Showing 1 to 20 of 259 entries

Previous1 2 3 4 5…13Next

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
PF00010	HLH	Helix-loop-helix DNA-binding domain	108-161			Homo sapiens
PF00989	PAS	PAS fold	181-287	CL0183	PAS_Fold	Homo sapiens
PF14598	PAS_11	PAS domain	368-477	CL0183	PAS_Fold	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Multiple congenital anomalies	Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.569	0.621
Bipolar Disorder	Mental Disorders ;	0.569	0.621
Mental Depression	Behavior and Behavior Mechanisms ;	0.569	0.621
Depressive disorder	Mental Disorders ;	0.569	0.621
Female infertility	Female Urogenital Diseases and Pregnancy Complications ;	0.569	0.621
Myeloid Leukemia, Chronic	Neoplasms ; Hemic and Lymphatic Diseases ;	0.569	0.621
Sterility, Postpartum	Female Urogenital Diseases and Pregnancy Complications ;	0.569	0.621
Seasonal Affective Disorder	Mental Disorders ;	0.569	0.621
Myocardial Ischemia	Cardiovascular Diseases ;	0.569	0.621
Hyperargininemia	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ;	0.569	0.621
Subfertility, Female	Female Urogenital Diseases and Pregnancy Complications ;	0.569	0.621
Mood Disorders	Mental Disorders ;	0.569	0.621
Female sterility	Female Urogenital Diseases and Pregnancy Complications ;	0.569	0.621
NO RESULT FOUND

Description:	Methoprene-tolerant [Source:FlyBase;Acc:FBgn0002723]
Synonyms:	met, Dmel_CG1705, Mett, bHLHe59, ET, Dmel\CG1705, Met/Met1, DmMet, Rst(1)JH, CG1705
Other ID(s):	FBgn0002723
Protein Accession Numbers:	NP_001285132, NP_511126
Statistics:	ClinVar(1) gnomAD(488) COSMIC(259) PTM(13)

Classification of Clinicial Significance of ClinVar Data