rs573985615

This variant is located in the POU5F1B gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About POU5F1B

This intronless gene was thought to be a transcribed pseudogene of POU class 5 homeobox 1, however, it has been reported that this gene can encode a functional protein. The encoded protein is nearly the same length as and highly similar to the POU class 5 homeobox 1 transcription factor, has been shown to be a weak transcriptional activator and may play a role in carcinogenesis and eye development. [provided by RefSeq, Apr 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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