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/Abenign
rs78172961017:48,818,548C/Tuncertain significance
rs250904253517:48,821,108G/Tuncertain significance
rs20165545017:48,823,114C/Auncertain significance
rs36962209317:48,823,357C/Tuncertain significance
rs55178947517:48,823,912T/Auncertain significance
rs118381579017:48,823,932A/Tuncertain significance
rs56711088017:48,823,967C/Tuncertain significance
rs36777029117:48,823,974G/Auncertain significance
rs93471349017:48,823,997C/Guncertain significance
rs52870773817:48,824,022A/Guncertain significance
rs75366629017:48,824,027C/Tuncertain significance
rs20030413917:48,827,936A/Cuncertain significance
rs77303834617:48,827,988A/Guncertain significance
rs76663546917:48,828,018A/Guncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.