LUC7L2
LUC7 like 2, pre-mRNA splicing factor
Summary
This gene encodes a protein that contains a C2H2-type zinc finger, coiled-coil region and arginine, serine-rich (RS) domain. A similar protein in mouse interacts with sodium channel modifier 1, and the encoded protein may be involved in the recognition of non-consensus splice donor sites in association with the U1 snRNP spliceosomal subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
Known Variants12 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4732371 | 7:139,077,317 | T/A | intron variant | — |
| rs774933065 | 7:139,090,396 | C/T | — | uncertain significance |
| rs2486665488 | 7:139,090,511 | G/A | — | uncertain significance |
| rs1192525312 | 7:139,094,358 | G/A | — | uncertain significance |
| rs144567740 | 7:139,099,813 | T/G | — | — |
| rs201414693 | 7:139,102,363 | C/T | — | uncertain significance |
| rs2486722672 | 7:139,102,382 | A/G | — | uncertain significance |
| rs753016350 | 7:139,102,402 | C/T | — | uncertain significance |
| rs749245444 | 7:139,102,433 | G/A | — | uncertain significance |
| rs199809653 | 7:139,106,940 | T/A | — | uncertain significance |
| rs754703629 | 7:139,107,012 | C/T | — | uncertain significance |
| rs376180116 | 7:139,107,067 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.