LUC7L3

LUC7 like 3 pre-mRNA splicing factor

Summary

This gene encodes a protein with an N-terminal half that contains cysteine/histidine motifs and leucine zipper-like repeats, and the C-terminal half is rich in arginine and glutamate residues (RE domain) and arginine and serine residues (RS domain). This protein localizes with a speckled pattern in the nucleus, and could be involved in the formation of splicesome via the RE and RS domains. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2009]

Known Variants17 total

rsidPosition (GRCh37)AllelesClassClinVar
rs54010521417:48,807,587C/A——
rs19028765317:48,813,471G/Aintron variant—
rs3588291117:48,818,502G/A—benign
rs78172961017:48,818,548C/T—uncertain significance
rs250904253517:48,821,108G/T—uncertain significance
rs20165545017:48,823,114C/A—uncertain significance
rs36962209317:48,823,357C/T—uncertain significance
rs55178947517:48,823,912T/A—uncertain significance
rs118381579017:48,823,932A/T—uncertain significance
rs56711088017:48,823,967C/T—uncertain significance
rs36777029117:48,823,974G/A—uncertain significance
rs93471349017:48,823,997C/G—uncertain significance
rs52870773817:48,824,022A/G—uncertain significance
rs75366629017:48,824,027C/T—uncertain significance
rs20030413917:48,827,936A/C—uncertain significance
rs77303834617:48,827,988A/G—uncertain significance
rs76663546917:48,828,018A/G—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.