rs2506559956
This variant is located in the PARN gene.
▶ClinVar annotation
Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
View on ClinVar →About PARN
The protein encoded by this gene is a 3'-exoribonuclease, with similarity to the RNase D family of 3'-exonucleases. It prefers poly(A) as the substrate, hence, efficiently degrades poly(A) tails of mRNAs. Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs. This protein is also involved in silencing of certain maternal mRNAs during oocyte maturation and early embryonic development, as well as in nonsense-mediated decay (NMD) of mRNAs that contain premature stop codons. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
View all PARN variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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