rs2517867877

This variant is located in the PES1 gene.

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ClinVar annotation

Likely Benign

1 submitter

EBV-positive nodal T- and NK-cell lymphoma

About PES1

This gene encodes a nuclear protein that contains a breast cancer associated gene 1 (BRCA1) C-terminal interaction domain. The encoded protein interacts with BOP1 and WDR12 to form the PeBoW complex, which plays a critical role in cell proliferation via pre-rRNA processing and 60S ribosomal subunit maturation. Expression of this gene may play an important role in breast cancer proliferation and tumorigenicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the long arm of chromosome 4 and the short arm of chromosome 9. [provided by RefSeq, Aug 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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