rs2539196887
This variant is located in the TUB gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout TUB
This gene encodes a member of the Tubby family of bipartite transcription factors. The encoded protein may play a role in obesity and sensorineural degradation. The crystal structure has been determined for a similar protein in mouse, and it functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
View all TUB variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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