Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 25913
MIM: 606478
HGNC: 17284
Ensembl: ENSG00000128513
Variants:
dbSNP: 25913
ClinVar: 25913
TCGA: ENSG00000128513
COSMIC: POT1
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38254993 | 2024 | Germline POT1 Variants: A Critical Perspective on POT1 Tumor Predisposition Syndrome. | 1 |
| 38429270 | 2024 | Decreased telomere length in a subgroup of young individuals with bipolar disorders: replication in the FACE-BD cohort and association with the shelterin component POT1. | 0 |
| 38540414 | 2024 | A POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies. | 0 |
| 38254993 | 2024 | Germline POT1 Variants: A Critical Perspective on POT1 Tumor Predisposition Syndrome. | 1 |
| 38429270 | 2024 | Decreased telomere length in a subgroup of young individuals with bipolar disorders: replication in the FACE-BD cohort and association with the shelterin component POT1. | 0 |
| 38540414 | 2024 | A POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies. | 0 |
| 37140166 | 2023 | Familial Clonal Hematopoiesis in a Long Telomere Syndrome. | 28 |
| 37183325 | 2023 | POT1 mutations cause differential effects on telomere length leading to opposing disease phenotypes. | 4 |
| 37466057 | 2023 | Characterization of POT1 tumor predisposition syndrome: Tumor prevalence in a clinically diverse hereditary cancer cohort. | 3 |
| 37590346 | 2023 | Human POT1 protects the telomeric ds-ss DNA junction by capping the 5' end of the chromosome. | 7 |
| 37770150 | 2023 | POT1 involved in telomeric DNA damage repair and genomic stability of cervical cancer cells in response to radiation. | 1 |
| 37140166 | 2023 | Familial Clonal Hematopoiesis in a Long Telomere Syndrome. | 28 |
| 37183325 | 2023 | POT1 mutations cause differential effects on telomere length leading to opposing disease phenotypes. | 4 |
| 37466057 | 2023 | Characterization of POT1 tumor predisposition syndrome: Tumor prevalence in a clinically diverse hereditary cancer cohort. | 3 |
| 37590346 | 2023 | Human POT1 protects the telomeric ds-ss DNA junction by capping the 5' end of the chromosome. | 7 |
Citation
Dessen P
POT1 (protection of telomeres 1)
Atlas Genet Cytogenet Oncol Haematol. 2006-10-01
Online version: http://atlasgeneticsoncology.org/gene/43423
