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
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs540105214 | 17:48,807,587 | C/A | — | — |
| rs190287653 | 17:48,813,471 | G/A | intron variant | — |
| rs35882911 | 17:48,818,502 | G/A | — | benign |
| rs781729610 | 17:48,818,548 | C/T | — | uncertain significance |
| rs2509042535 | 17:48,821,108 | G/T | — | uncertain significance |
| rs201655450 | 17:48,823,114 | C/A | — | uncertain significance |
| rs369622093 | 17:48,823,357 | C/T | — | uncertain significance |
| rs551789475 | 17:48,823,912 | T/A | — | uncertain significance |
| rs1183815790 | 17:48,823,932 | A/T | — | uncertain significance |
| rs567110880 | 17:48,823,967 | C/T | — | uncertain significance |
| rs367770291 | 17:48,823,974 | G/A | — | uncertain significance |
| rs934713490 | 17:48,823,997 | C/G | — | uncertain significance |
| rs528707738 | 17:48,824,022 | A/G | — | uncertain significance |
| rs753666290 | 17:48,824,027 | C/T | — | uncertain significance |
| rs200304139 | 17:48,827,936 | A/C | — | uncertain significance |
| rs773038346 | 17:48,827,988 | A/G | — | uncertain significance |
| rs766635469 | 17:48,828,018 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.