CDK6 (GeneID: 1021) | Homo sapiens
Description: cyclin dependent kinase 6 [Source:HGNC Symbol;Acc:HGNC:1777]
Synonyms: MCPH12, PLSTIRE
Other ID(s): HGNC:1777, ENSG00000105810
Protein Accession Numbers: ENST00000424848, NP_001250, ENST00000265734.4, NP_001138778, ENST00000265734
Statistics: ClinVar(22) gnomAD(357) COSMIC(1125) PTM(40)
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.
ENST00000265734 You are here now! ENST00000424848 You are here now! NP_001138778 You are here now! NP_001250 You are here now!


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

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
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
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