Gene:
TERT
telomerase reverse transcriptase

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

List of all variant annotations for TERT

Variant?
(147)
Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No Clinical Annotations available Variant in TERT
Variant in TERT N/A N/A N/A
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

Overview

Alternate Names:  None
Alternate Symbols:  EST2; TCS1; TP2; TRT; hEST2
PharmGKB Accession Id: PA36447

Details

Cytogenetic Location: chr5 : p15.33 - p15.33
GP mRNA Boundary: chr5 : 1253282 - 1295162
GP Gene Boundary: chr5 : 1250282 - 1305162
Strand: minus

Visualization

UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.

View on UCSC Browser
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.
No related genes are available

Curated Information ?

Evidence Drug
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
rituximab

Curated Information ?

Publications related to TERT: 3

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Role of the functional MNS16A VNTR-243 variant of the human telomerase reverse transcriptase gene in progression and response to therapy of patients with non-Hodgkin's B-cell lymphomas. International journal of immunogenetics. 2015. Wysoczanska B, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis. Journal of medical genetics. 2008. Mushiroda T, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. American journal of human genetics. 2008. Savage Sharon A, et al. PubMed

LinkOuts

NCBI Gene:
7015
OMIM:
127550
178500
187270
609135
UCSC Genome Browser:
NM_003219
RefSeq RNA:
NM_001193376
NM_198253
NM_198255
RefSeq Protein:
NP_001180305
NP_937983
NP_937986
RefSeq DNA:
NG_009265
NT_006576
UniProtKB:
TERT_HUMAN (O14746)
Q8NG38_HUMAN (Q8NG38)
Ensembl:
ENSG00000164362
GenAtlas:
TERT
GeneCard:
TERT
MutDB:
TERT
ALFRED:
LO201898C
HuGE:
TERT
Comparative Toxicogenomics Database:
7015
ModBase:
O14746
HumanCyc Gene:
HS09070
HGNC:
11730

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