ConVarT

TREM2 (GeneID: 748470) | Pan troglodytes

Description:	triggering receptor expressed on myeloid cells 2 [Source:VGNC Symbol;Acc:VGNC:3757]
Synonyms:
Other ID(s):	ENSPTRG00000018149
Protein Accession Numbers:	XP_001174118, XP_001174108
Statistics:	ClinVar(34) gnomAD(217) COSMIC(72) PTM(2)

ClinVar Pathogenicity of Variations

∙ 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.
ENST00000338469 ENST00000373113 You are here now! ENST00000373122 NP_001258750 NP_061838 You are here now!

ClinVar Data

Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter

Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

Catalogue of Somatic Mutations in Cancer (COSMIC)

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position

dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF07686	V-set	Immunoglobulin V-set domain	19-129	CL0011	Ig	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Alzheimer's Disease	Nervous System Diseases ; Mental Disorders ;	0.572	0.552
Amyotrophic Lateral Sclerosis	Nervous System Diseases ; Nutritional and Metabolic Diseases ;	0.572	0.552
Presenile dementia	Nervous System Diseases ; Mental Disorders ;	0.572	0.552
Osteogenesis Imperfecta	Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ;	0.572	0.552
Familial Alzheimer Disease (FAD)	Nervous System Diseases ; Mental Disorders ;	0.572	0.552
Semantic Dementia	Nervous System Diseases ; Nutritional and Metabolic Diseases ; Mental Disorders ;	0.572	0.552
Senile Paranoid Dementia	Nervous System Diseases ; Mental Disorders ;	0.572	0.552
Alzheimer Disease, Late Onset	Nervous System Diseases ; Mental Disorders ;	0.572	0.552
Dementia	Nervous System Diseases ; Mental Disorders ;	0.572	0.552
Acute Confusional Senile Dementia	Nervous System Diseases ; Mental Disorders ;	0.572	0.552
Alzheimer's Disease, Focal Onset	Nervous System Diseases ; Mental Disorders ;	0.572	0.552
Alzheimer Disease, Early Onset	Nervous System Diseases ; Mental Disorders ;	0.572	0.552
Familial Dementia	Nervous System Diseases ; Mental Disorders ;	0.572	0.552
Primary Progressive Nonfluent Aphasia	Nervous System Diseases ; Nutritional and Metabolic Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ;	0.572	0.552
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY	Virus Diseases ; Musculoskeletal Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; Nutritional and Metabolic Diseases ;	0.572	0.552
Behavioral variant of frontotemporal dementia	N/A	0.572	0.552
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data