TUBB2A (GeneID: 7280) | Homo sapiens
Description: tubulin beta 2A class IIa [Source:HGNC Symbol;Acc:HGNC:12412]
Synonyms: CDCBM5, TUBB2, TUBB
Other ID(s): ENSG00000137267, HGNC:12412
Protein Accession Numbers: ENST00000333628.3, NP_001297244, ENST00000333628, NP_001060
Statistics: ClinVar(50) COSMIC(66) PTM(63)
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.
ENST00000333628 You are here now! NP_001060 You are here now! NP_001297244


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
PF00091 Tubulin Tubulin/FtsZ family, GTPase domain 3-212 CL0566 Tubulin Homo sapiens
PF03953 Tubulin_C Tubulin C-terminal domain 261-383 CL0442 Tubulin_C Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Cerebrovascular Disorders Nervous System Diseases ; Cardiovascular Diseases ; 0.707 0.31
Creutzfeldt-Jakob disease Nervous System Diseases ; Mental Disorders ; 0.707 0.31
Leukemia, Myelocytic, Acute Neoplasms ; 0.707 0.31
Acute Myeloid Leukemia, M1 Neoplasms ; 0.707 0.31
Juvenile-Onset Still Disease Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ; 0.707 0.31
New Variant Creutzfeldt-Jakob Disease Nervous System Diseases ; Mental Disorders ; 0.707 0.31
Creutzfeldt-Jakob Disease, Familial Nervous System Diseases ; Mental Disorders ; 0.707 0.31
Colorectal Cancer Neoplasms ; Digestive System Diseases ; 0.707 0.31
Acute Myeloid Leukemia (AML-M2) Neoplasms ; 0.707 0.31
Malformations of Cortical Development Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.707 0.31
Juvenile arthritis Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ; 0.707 0.31
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.707 0.31
Juvenile psoriatic arthritis Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ; 0.707 0.31
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 N/A 0.707 0.31
NO RESULT FOUND
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