AKAP12 (GeneID: 9590) | Homo sapiens
Description: A-kinase anchoring protein 12 [Source:HGNC Symbol;Acc:HGNC:370]
Synonyms: AKAP250, SSeCKS
Other ID(s): HGNC:370, ENSG00000131016
Protein Accession Numbers: ENST00000359755, NP_001357275, ENST00000354675, NP_653080, ENST00000402676, ENST00000253332, NP_005091
Statistics: ClinVar(16) gnomAD(1438) COSMIC(413) PTM(195)
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.
ENST00000253332 ENST00000354675 ENST00000359755 ENST00000402676 NP_001357275 NP_005091 NP_653080


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
NO DOMAINS EXIST

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Malignant neoplasm of breast Neoplasms ; Skin and Connective Tissue Diseases ; 0.616 0.414
Breast Carcinoma Neoplasms ; Skin and Connective Tissue Diseases ; 0.616 0.414
Mammary Neoplasms, Human Neoplasms ; Skin and Connective Tissue Diseases ; 0.616 0.414
Mammary Neoplasms Neoplasms ; Skin and Connective Tissue Diseases ; 0.616 0.414
Colorectal Cancer Neoplasms ; Digestive System Diseases ; 0.616 0.414
NO RESULT FOUND
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