rs929365

This variant is located in the POT1 gene.

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ClinVar annotation

Likely Benign★☆☆☆
1 submitter
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Research that mentions this SNP (1)

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Telomere length and genetic analyses in population‐based studies of endometrial cancer risk
AssociationN=2,359Jennifer Prescott et al.(2010)· Cancer

This nested case-control study examined the association between relative telomere length and genetic variants in telomere maintenance genes (TERT, TNKS2, POT1, TERF1, TERF2) with endometrial cancer risk in 674 cases and 1,685 controls. Relative telomere length was not significantly associated with endometrial cancer risk (OR=1.20, 95% CI=0.73-1.96). However, variants rs2736122 in TERT (OR=1.18, 95% CI=1.01-1.38) and rs12412538 in TNKS2 (OR=1.16, 95% CI=1.00-1.34) showed elevated endometrial cancer risk, though these associations did not reach statistical significance after multiple comparisons correction.

Traits studied:Endometrial cancer
PubMedDOIMetascience Observatory

About POT1

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]

View all POT1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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