Ctnna1 (GeneID: 12385) | Mus musculus
Description: catenin (cadherin associated protein), alpha 1 [Source:MGI Symbol;Acc:MGI:88274]
Synonyms: Catna1, 2010010M04Rik, AI988031, AA517462
Other ID(s): MGI:88274, ENSMUSG00000037815
Protein Accession Numbers: NP_033948, XP_011245120, XP_036016847, XP_006525611, XP_030106159
Statistics: ClinVar(3636) gnomAD(575) COSMIC(772) PTM(98)
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.
ENST00000302763 You are here now! ENST00000355078 ENST00000517533 ENST00000517656 ENST00000517980 ENST00000518381 ENST00000518825 ENST00000518910 ENST00000519113 ENST00000519116 ENST00000519309 ENST00000519634 ENST00000519768 ENST00000520158 ENST00000520260 ENST00000520339 ENST00000520520 ENST00000520522 ENST00000520865 ENST00000521368 ENST00000521640 ENST00000521683 ENST00000521724


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
PF01044 Vinculin Vinculin family 333-867 CL0705 VBS-like Homo sapiens
PF01044 Vinculin Vinculin family 19-339 CL0705 VBS-like Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Hereditary Nonpolyposis Colorectal Neoplasms Neoplasms ; Digestive System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.636 0.483
Leukemia, Myelocytic, Acute Neoplasms ; 0.636 0.483
Acute Myeloid Leukemia, M1 Neoplasms ; 0.636 0.483
Gastrointestinal Stromal Tumors Neoplasms ; Digestive System Diseases ; 0.636 0.483
Hereditary non-polyposis colorectal cancer syndrome N/A 0.636 0.483
Hereditary Nonpolyposis Colorectal Cancer Neoplasms ; Digestive System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.636 0.483
Hereditary Diffuse Gastric Cancer Neoplasms ; Digestive System Diseases ; 0.636 0.483
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 Eye Diseases ; 0.636 0.483
Patterned dystrophy of retinal pigment epithelium Eye Diseases ; 0.636 0.483
Acute Myeloid Leukemia (AML-M2) Neoplasms ; 0.636 0.483
Hematopoetic Myelodysplasia Hemic and Lymphatic Diseases ; 0.636 0.483
Gastrointestinal Stromal Sarcoma Neoplasms ; Digestive System Diseases ; 0.636 0.483
MYELODYSPLASTIC SYNDROME Hemic and Lymphatic Diseases ; 0.636 0.483
Butterfly-shaped pigmentary macular dystrophy N/A 0.636 0.483
NO RESULT FOUND
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