CALM2, CALM3, CALM1 (GeneID: 805) | Homo sapiens
Description: calmodulin 3 [Source:HGNC Symbol;Acc:HGNC:1449], calmodulin 1 [Source:HGNC Symbol;Acc:HGNC:1442], calmodulin 2 [Source:HGNC Symbol;Acc:HGNC:1445]
Synonyms: LQT15, caM, PHKD, LQT14, PHKD2, CaM, CPVT4, CAMII, CALML2, HEL-S-72, HKD, CAMI, PHKD3, CaMIII, DD132
Other ID(s): HGNC:1449, ENSG00000160014, HGNC:1442, HGNC:1445, ENSG00000198668, ENSG00000143933
Protein Accession Numbers: ENST00000596362, ENST00000597743, NP_001316854, ENST00000356978, ENST00000553542, NP_001292553, ENST00000272298, ENST00000447653, ENST00000456319, ENST00000553630, ENST00000557020, NP_001316851, NP_008819, ENST00000391918, ENST00000409563, ENST00000544280, ENST00000553422, ENST00000598871, ENST00000599839, NP_005175, NP_001292555, ENST00000291295, ENST00000594523, NP_001316853, ENST00000432899, NP_001316850, NP_001350599, NP_001316855, NP_001292554, NP_001316852, ENST00000272298.7, NP_001350598, ENST0000043
Statistics: ClinVar(220) gnomAD(193) COSMIC(300)
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.
ENST00000272298 ENST00000291295 ENST00000356978 ENST00000391918 You are here now! ENST00000409563 ENST00000432899 ENST00000447653 ENST00000456319 ENST00000544280 You are here now! ENST00000553422 ENST00000553542 You are here now! ENST00000553630 ENST00000557020 ENST00000594523 You are here now! ENST00000596362 ENST00000597743 ENST00000598871 You are here now! ENST00000599839 You are here now! NP_001292553 NP_001292554 You are here now! NP_001292555 You are here now! NP_001734


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
PF13499 EF-hand_7 EF-hand domain pair 47-111 CL0220 EF_hand Homo sapiens
PF13833 EF-hand_8 EF-hand domain pair 1-40 CL0220 EF_hand Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Bipolar Disorder Mental Disorders ; 0.472 0.793
Cannabis Abuse Chemically-Induced Disorders ; Mental Disorders ; 0.472 0.793
Cannabis Dependence Chemically-Induced Disorders ; Mental Disorders ; 0.472 0.793
Cocaine Abuse Chemically-Induced Disorders ; Mental Disorders ; 0.472 0.793
Mental Depression Behavior and Behavior Mechanisms ; 0.472 0.793
Depressive disorder Mental Disorders ; 0.472 0.793
Hashish Abuse Chemically-Induced Disorders ; Mental Disorders ; 0.472 0.793
Long QT Syndrome Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.472 0.793
Marijuana Abuse Chemically-Induced Disorders ; Mental Disorders ; 0.472 0.793
Phencyclidine Abuse Chemically-Induced Disorders ; Mental Disorders ; 0.472 0.793
Romano-Ward Syndrome Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.472 0.793
Cannabis-Related Disorder Chemically-Induced Disorders ; Mental Disorders ; 0.472 0.793
Cocaine-Related Disorders Chemically-Induced Disorders ; Mental Disorders ; 0.472 0.793
Phencyclidine-Related Disorders Chemically-Induced Disorders ; Mental Disorders ; 0.472 0.793
Severe depression N/A 0.472 0.793
Cocaine Dependence Chemically-Induced Disorders ; Mental Disorders ; 0.472 0.793
Brugada Syndrome (disorder) Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.472 0.793
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.472 0.793
LONG QT SYNDROME 15 N/A 0.472 0.793
NO RESULT FOUND
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