ConVarT

TUBB (GeneID: 574113) | Macaca mulatta

Description:	tubulin beta class I [Source:NCBI gene;Acc:574113]
Synonyms:	TUBB2A, TUBB5, TUBB2B
Other ID(s):	ENSMMUG00000030028
Protein Accession Numbers:	XP_014991324, NP_001027985
Statistics:	ClinVar(36)

ClinVar Pathogenicity of Variations

Benign

Conflicting

Pathogenic

Others

VUS

∙ 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.
ENST00000327892 ENST00000330914 ENST00000383564 ENST00000396384 ENST00000396389 ENST00000400530 ENST00000400531 ENST00000400534 ENST00000412136 ENST00000413547 ENST00000419551 ENST00000419792 ENST00000420400 ENST00000420618 ENST00000421473 ENST00000422650 ENST00000422674 ENST00000424734 ENST00000425102 ENST00000425136 ENST00000426754 ENST00000427480 ENST00000432462 ENST00000435534 ENST00000435546

import_contactsClinVar Data
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                    Variation ID filter_listAllele ID filter_listRS Number filter_listVariant Type filter_listRecord filter_listAlteration filter_listClinicial Sig. filter_listLast Update filter_listPhenotypes filter_listCytogenetic filter_listReview Status filter_listRCV Acc.N. filter_list

healinggnomAD
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                    Variant ID filter_listTranscript ID filter_listAlteration filter_listAnnotation filter_listAllele C. filter_listAllele N. filter_listAllele F. filter_listrsNumber filter_listFlagsfilter_listFilter filter_list

                    No data available in table

                Showing 0 to 0 of 0 entries
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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
                        
                                NO DOMAINS EXIST
                            
view_listList of the diseases from DisGeNET

                            Disease Name filter_list
                            Disease Category filter_list
                            DSI* filter_list
                            DPI** filter_list
                        
                                    Michelin tire baby syndrome
                                    Neoplasms ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 
                                    0.611
                                    0.655
                                
                                    CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6
                                    N/A
                                    0.611
                                    0.655
                                
                            NO RESULT FOUND