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

Frameshift Variant

Inframe Deletion

Missense Variant

Splice Region Variant

Stop Gained

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags
7-92244453-CTCAGGCTGTAT-C	ENST00000265734	p.Asn324Arg	Frameshift Variant	0	0	0	rs1159351348	lc_lof
7-92244458-G-A	ENST00000265734	p.Ala326Val	Missense Variant	1	31400	0.000032	rs373777849
7-92244458-G-A	ENST00000424848	p.Ala326Val	Missense Variant	1	31400	0.000032	rs373777849
7-92244459-C-G	ENST00000265734	p.Ala326Pro	Missense Variant	0	0	0	rs763800540
7-92244459-C-G	ENST00000424848	p.Ala326Pro	Missense Variant	0	0	0	rs763800540
7-92244461-G-A	ENST00000265734	p.Thr325Ile	Missense Variant	1	31400	0.000032	rs1403820077
7-92244461-G-A	ENST00000424848	p.Thr325Ile	Missense Variant	1	31400	0.000032	rs1403820077
7-92244466-C-T	ENST00000265734	p.Leu323Leu	Synonymous Variant	0	0	0	rs1018330652
7-92244466-C-T	ENST00000424848	p.Leu323Leu	Synonymous Variant	0	0	0	rs1018330652
7-92244468-G-C	ENST00000265734	p.Leu323Val	Missense Variant	0	0	0	rs1355845437
7-92244468-G-C	ENST00000424848	p.Leu323Val	Missense Variant	0	0	0	rs1355845437
7-92244469-C-T	ENST00000265734	p.Glu322Glu	Synonymous Variant	0	0	0	rs776571874
7-92244469-C-T	ENST00000424848	p.Glu322Glu	Synonymous Variant	0	0	0	rs776571874
7-92244470-T-C	ENST00000265734	p.Glu322Gly	Missense Variant	1	31388	0.000032	rs761676819
7-92244470-T-C	ENST00000424848	p.Glu322Gly	Missense Variant	1	31388	0.000032	rs761676819
7-92244472-C-T	ENST00000265734	p.Ser321Ser	Synonymous Variant	1	31400	0.000032	rs146714729
7-92244472-C-T	ENST00000424848	p.Ser321Ser	Synonymous Variant	1	31400	0.000032	rs146714729
7-92244473-G-A	ENST00000265734	p.Ser321Leu	Missense Variant	0	0	0	rs751603107
7-92244473-G-A	ENST00000424848	p.Ser321Leu	Missense Variant	0	0	0	rs751603107
7-92244486-T-A	ENST00000265734	p.Ser317Cys	Missense Variant	96	31396	0.003058	rs140409009

Showing 1 to 20 of 357 entries

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Post-translational Modifications (PTMs)

Acetylation

Methylation

Phosphorylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
CDK6	Q00534	Ubiquitination	111	K111-ub	DLTTYLDkVPEPGVP	36.94	964504720
CDK6	Q00534	Ubiquitination	123	K123-ub	GVPTETIkDMMFQLL	36.94	964504722
CDK6	Q00534	Phosphorylation	13	Y13-p	LCRADQQyECVAEIG	36.94	448902
CDK6	Q00534	Ubiquitination	147	K147-ub	RVVHRDLkPQNILVT	36.94	12107599
CDK6	Q00534	Phosphorylation	155	S155-p	PQNILVTsSGQIkLA	36.94	7445692
CDK6	Q00534	Ubiquitination	160	K160-ub	VTsSGQIkLADFGLA	36.94	573766588
CDK6	Q00534	Phosphorylation	177	T177-p	YSFQMALtSVVVTLW	36.94	2454600
CDK6	Q00534	Phosphorylation	222	S222-p	RKPLFRGssDVDQLG	36.94	23092450
CDK6	Q00534	Phosphorylation	223	S223-p	KPLFRGssDVDQLGk	36.94	7445695
CDK6	Q00534	Ubiquitination	230	K230-ub	sDVDQLGkILDVIGL	36.94	15386381
CDK6	Q00534	Phosphorylation	24	Y24-p	AEIGEGAyGkVFkAR	36.94	448903
CDK6	Q00534	Ubiquitination	257	K257-ub	PRQAFHSkSAQPIEk	36.94	486730
CDK6	Q00534	Ubiquitination	26	K26-ub	IGEGAyGkVFkARDL	36.94	486664
CDK6	Q00534	Acetylation	26	K26-ac	IGEGAyGkVFkARDL	36.94	41518176
CDK6	Q00534	Ubiquitination	264	K264-ub	kSAQPIEkFVtDIDE	36.94	15386384
CDK6	Q00534	Acetylation	264	K264-ac	kSAQPIEkFVtDIDE	36.94	11322341
CDK6	Q00534	Phosphorylation	267	T267-p	QPIEkFVtDIDELGk	36.94	55374106
CDK6	Q00534	Ubiquitination	274	K274-ub	tDIDELGkDLLLkCL	36.94	12109973
CDK6	Q00534	Ubiquitination	279	K279-ub	LGkDLLLkCLTFNPA	36.94	12110394
CDK6	Q00534	Ubiquitination	287	K287-ub	CLTFNPAkRIsAysA	36.94	6198962

Showing 1 to 20 of 40 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

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
CDK6	ENST00000265734	AOCS-085-1-2	ovary	carcinoma	21934688	c.*8806G>T	p.?	Unknown	NEUTRAL	.07986	Confirmed somatic variant	PMID: N/A	NS	0
CDK6	ENST00000265734	T2621	large_intestine	carcinoma	21932919	c.138G>A	p.R46=	Substitution - coding silent		.55101	Confirmed somatic variant	PMID: 25344691	NS	46
CDK6	ENST00000265734	8057490	pancreas	carcinoma	21940019	c.233+28269G>A	p.?	Unknown	NEUTRAL	.00452	Confirmed somatic variant	PMID: N/A	NS	0
CDK6	ENST00000265734	FFPE-4	pancreas	carcinoma	21937951	c.698+147G>C	p.?	Unknown	PATHOGENIC	.95886	Confirmed somatic variant	PMID: 29109526	primary	0
CDK6	ENST00000265734	PD11384a	breast	carcinoma	21939144	c.647+7084C>G	p.?	Unknown	NEUTRAL	.1587	Confirmed somatic variant	PMID: N/A	NS	0
CDK6	ENST00000265734	PD13760a	breast	carcinoma	21935332	c.369+3404T>G	p.?	Unknown	NEUTRAL	.00383	Confirmed somatic variant	PMID: N/A	NS	0
CDK6	ENST00000265734	J32_T	lung	carcinoma	21938435	c.698+455A>G	p.?	Unknown	NEUTRAL	.06346	Confirmed somatic variant	PMID: N/A	NS	0
CDK6	ENST00000265734	RK054_C01	liver	carcinoma	21932758	c.-194C>A	p.?	Unknown	NEUTRAL	.42577	Variant of unknown origin	PMID: N/A	primary	0
CDK6	ENST00000265734	T_CCA_SG_15	biliary_tract	carcinoma	21932926	c.648-10539del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
CDK6	ENST00000265734	8066067	pancreas	carcinoma	21937596	c.369+19319A>G	p.?	Unknown	NEUTRAL	.38537	Confirmed somatic variant	PMID: N/A	NS	0
CDK6	ENST00000265734	DN14011	breast	carcinoma	21937264	c.234-5711G>A	p.?	Unknown	NEUTRAL	.00024	Confirmed somatic variant	PMID: N/A	primary	0
CDK6	ENST00000265734	T_CCA_TH_12	biliary_tract	carcinoma	21933650	c.538-2553del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
CDK6	ENST00000265734	P-0004537-T01-IM5	breast	carcinoma	21933565	c.304G>A	p.D102N	Substitution - Missense	PATHOGENIC	.98202	Confirmed somatic variant	PMID: 30205045	metastasis	102
CDK6	ENST00000265734	0154_CRUK_PC_0154_T1_DNA	prostate	carcinoma	21935877	c.698+1699G>A	p.?	Unknown	NEUTRAL	.06779	Confirmed somatic variant	PMID: N/A	primary	0
CDK6	ENST00000265734	8066067	pancreas	carcinoma	21937599	c.369+19309C>T	p.?	Unknown	PATHOGENIC	.84489	Confirmed somatic variant	PMID: N/A	NS	0
CDK6	ENST00000265734	TCGA-EE-A2GK-06	skin	malignant_melanoma	21932762	c.456G>T	p.L152=	Substitution - coding silent	PATHOGENIC	.80003	Confirmed somatic variant	PMID: N/A	NS	152
CDK6	ENST00000265734	RK054_C01	liver	carcinoma	21932749	c.234-25926A>G	p.?	Unknown	NEUTRAL	.02023	Variant of unknown origin	PMID: N/A	primary	0
CDK6	ENST00000265734	T_CCA_TH_12	biliary_tract	carcinoma	21933654	c.234-9561C>G	p.?	Unknown	NEUTRAL	.49696	Confirmed somatic variant	PMID: N/A	primary	0
CDK6	ENST00000265734	LICA-CN-HCC_WGS_016T	liver	other	21935598	c.538-18829T>G	p.?	Unknown	NEUTRAL	.00352	Confirmed somatic variant	PMID: N/A	primary	0
CDK6	ENST00000265734	PCSI_0010_Pa_X	pancreas	carcinoma	21940798	c.538-7132A>T	p.?	Unknown	NEUTRAL	.05324	Confirmed somatic variant	PMID: N/A	NS	0

Showing 1 to 20 of 1,125 entries

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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
PF00069	Pkinase	Protein kinase domain	13-300	CL0016	PKinase	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Anemia	Hemic and Lymphatic Diseases ;	0.508	0.69
Rheumatoid Arthritis	Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ;	0.508	0.69
Autosome Abnormalities	Pathological Conditions, Signs and Symptoms ;	0.508	0.69
Malignant Neoplasms	Neoplasms ;	0.508	0.69
Chromosome Aberrations	Pathological Conditions, Signs and Symptoms ;	0.508	0.69
Glioblastoma	Neoplasms ;	0.508	0.69
Childhood Acute Lymphoblastic Leukemia	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.508	0.69
Leukemia, Lymphocytic, Acute, L2	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.508	0.69
Leukemia, Myelocytic, Acute	Neoplasms ;	0.508	0.69
liposarcoma	Neoplasms ;	0.508	0.69
Lymphoma	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.508	0.69
Mammary Neoplasms, Experimental	Neoplasms ;	0.508	0.69
Medulloblastoma	Neoplasms ;	0.508	0.69
Microcephaly	Musculoskeletal Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.508	0.69
Acute Myeloid Leukemia, M1	Neoplasms ;	0.508	0.69
Cerebrovascular accident	Nervous System Diseases ; Cardiovascular Diseases ;	0.508	0.69
Medullomyoblastoma	Neoplasms ;	0.508	0.69
Chloracne	Skin and Connective Tissue Diseases ;	0.508	0.69
Childhood Medulloblastoma	Neoplasms ;	0.508	0.69
Adult Medulloblastoma	Neoplasms ;	0.508	0.69
Metastatic melanoma	N/A	0.508	0.69
Giant Cell Glioblastoma	Neoplasms ;	0.508	0.69
Malignant mesothelioma	Neoplasms ; Respiratory Tract Diseases ;	0.508	0.69
Primary microcephaly	N/A	0.508	0.69
Brain Stem Neoplasms	Neoplasms ; Nervous System Diseases ;	0.508	0.69
Desmoplastic Medulloblastoma	Neoplasms ;	0.508	0.69
Brain Stem Neoplasms, Primary	Neoplasms ; Nervous System Diseases ;	0.508	0.69
Medullary Neoplasms	Neoplasms ; Nervous System Diseases ;	0.508	0.69
Mesencephalic Neoplasms	Neoplasms ; Nervous System Diseases ;	0.508	0.69
Pontine Tumors	Neoplasms ; Nervous System Diseases ;	0.508	0.69
Acute Cerebrovascular Accidents	Nervous System Diseases ; Cardiovascular Diseases ;	0.508	0.69
Melanotic medulloblastoma	Neoplasms ;	0.508	0.69
Glioblastoma Multiforme	Neoplasms ;	0.508	0.69
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.508	0.69
Precursor Cell Lymphoblastic Leukemia Lymphoma	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.508	0.69
Autosomal Recessive Primary Microcephaly	Musculoskeletal Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.508	0.69
MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE	N/A	0.508	0.69
NO RESULT FOUND

Description:	cyclin dependent kinase 6 [Source:NCBI gene;Acc:701822]
Synonyms:
Other ID(s):	ENSMMUG00000008698
Protein Accession Numbers:	XP_014989717, XP_014989716, NP_001248236
Statistics:	ClinVar(22) gnomAD(357) COSMIC(1125) PTM(40)

Classification of Clinicial Significance of ClinVar Data