B9D2 (GeneID: 80776) | Homo sapiens
Description: B9 domain containing 2 [Source:HGNC Symbol;Acc:HGNC:28636]
Synonyms: ICIS-1, MKSR2, MKS10
Other ID(s): ENSG00000123810, HGNC:28636
Protein Accession Numbers: ENST00000243578.3, NP_085055, ENST00000243578, ENST00000594416
Statistics: ClinVar(23) gnomAD(215) COSMIC(81)
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.
ENST00000243578 You are here now! ENST00000594416 NP_085055 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
PF07162 B9-C2 Ciliary basal body-associated, B9 protein 4-164 CL0154 C2 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Polydactyly Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.663 0.448
Meckel-Gruber syndrome N/A 0.663 0.448
MECKEL SYNDROME, TYPE 10 N/A 0.663 0.448
Ciliopathies Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.663 0.448
JOUBERT SYNDROME 34 N/A 0.663 0.448
NO RESULT FOUND
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