POT1 Chromosome 7
Protection of telomeres 1
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What This Gene Does
This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Shelterin complex
Locus Type
gene with protein product
Location
7q31.33
Ensembl
ENSG00000128513
Associated Conditions (28)
Dyskeratosis congenita
Hereditary cancer-predisposing syndrome
Tumor predisposition syndrome 3
POT1-related disorder
Pulmonary fibrosis and/or bone marrow failure syndrome
telomere-related
8
Cerebroretinal microangiopathy with calcifications and cysts 3
Long telomere syndrome
Glioma susceptibility 1
Melanoma
cutaneous malignant
susceptibility to
1
Diffuse midline glioma
H3 K27-altered
Hereditary cancer
See cases
Cervical cancer
Malignant tumor of esophagus
+8 more conditions
Key Variants
RS1021547035
Conflicting classifications of pathogenicity
Dyskeratosis congenita, Hereditary cancer-predisposing syndrome, Dyskeratosis congenita
Health Risk
RS116916706
Conflicting classifications of pathogenicity
Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome, POT1-related disorder
Health Risk
RS1172142052
Conflicting classifications of pathogenicity
Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
Health Risk
RS1178219050
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
Health Risk
RS1195670739
Conflicting classifications of pathogenicity
Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
Health Risk
RS1218962425
Conflicting classifications of pathogenicity
Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome, Pulmonary fibrosis and/or bone marrow failure syndrome
Health Risk
RS1225635203
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
Health Risk
RS1227070716
Conflicting classifications of pathogenicity
Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome, Pulmonary fibrosis and/or bone marrow failure syndrome
Health Risk
RS1238381156
Conflicting classifications of pathogenicity
Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
Health Risk
RS1260902476
Conflicting classifications of pathogenicity
Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
Health Risk
RS1291756890
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
Health Risk
RS1297963302
Conflicting classifications of pathogenicity
Tumor predisposition syndrome 3, Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related
Health Risk
All Variants (304)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1554416461 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS1554420583 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS1562981913 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Long telomere syndrome, Tumor predisposition syndrome 3 |
| RS1584749232 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3 |
| RS1584757180 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1584757207 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1584773024 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS1584777802 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1794651890 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS1794873824 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS1794873983 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3 |
| RS1795015022 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome |
| RS1795353084 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS1795652293 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS1795851272 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1795852638 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3 |
| RS1795853533 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS1796390355 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS1796391959 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS1796511665 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2116414744 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3 |
| RS2116415082 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3 |
| RS2116421906 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2116443784 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3 |
| RS2116443901 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2116444559 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2116444583 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2116461581 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2116501128 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2116504894 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3 |
| RS2116505095 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2116505279 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2116525878 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3 |
| RS2116526253 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2116526346 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2116526564 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2116542410 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3 |
| RS2116542675 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3 |
| RS2116567355 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome |
| RS2116567603 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2116643174 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2116643224 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2485345263 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2485345289 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2485352448 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2485352489 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2485374234 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2485374557 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2485394074 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS2485394271 | Health Risk | Pathogenic | Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3 |