rs606231450
This is a variant in the BRF1 gene that changes a proline to an arginine.
▶ClinVar annotation
About BRF1
This gene encodes one of the three subunits of the RNA polymerase III transcription factor complex. This complex plays a central role in transcription initiation by RNA polymerase III on genes encoding tRNA, 5S rRNA, and other small structural RNAs. The gene product belongs to the TF2B family. Several alternatively spliced variants encoding different isoforms, that function at different promoters transcribed by RNA polymerase III, have been identified. [provided by RefSeq, Jun 2011]
View all BRF1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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