ABCA7 (GeneID: 10347) | Homo sapiens
Description: ATP binding cassette subfamily A member 7 [Source:HGNC Symbol;Acc:HGNC:37]
Synonyms: ABCA-SSN, AD9, ABCX
Other ID(s): ENSG00000064687, HGNC:37
Protein Accession Numbers: ENST00000263094.6, ENST00000530092, ENST00000435683, ENST00000263094, NP_061985, ENST00000525073, ENST00000433129, ENST00000531467, ENST00000524850
Statistics: gnomAD(2641) COSMIC(568)
gnomAD Variants By Annotation

∙ 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.
ENST00000263094 ENST00000433129 ENST00000435683 ENST00000524850 ENST00000525073 ENST00000530092 ENST00000531467 NP_061985


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
PF12698 ABC2_membrane_3 ABC-2 family transporter protein 1429-1772 CL0181 ABC-2 Mus musculus
PF12698 ABC2_membrane_3 ABC-2 family transporter protein 518-747 CL0181 ABC-2 Mus musculus
PF00005 ABC_tran ABC transporter 821-965 CL0023 P-loop_NTPase Mus musculus
PF00005 ABC_tran ABC transporter 1832-1976 CL0023 P-loop_NTPase Mus musculus

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.69 0.379
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.69 0.379
Disease Exacerbation Pathological Conditions, Signs and Symptoms ; 0.69 0.379
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.69 0.379
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.69 0.379
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.69 0.379
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.69 0.379
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.69 0.379
Alzheimer Disease 9 Nervous System Diseases ; Mental Disorders ; 0.69 0.379
NO RESULT FOUND
feedback