LMO1
LIM domain only 1
Summary
This locus encodes a transcriptional regulator that contains two cysteine-rich LIM domains but lacks a DNA-binding domain. LIM domains may play a role in protein interactions; thus the encoded protein may regulate transcription by competitively binding to specific DNA-binding transcription factors. Alterations at this locus have been associated with acute lymphoblastic T-cell leukemia. Chromosomal rearrangements have been observed between this locus and at least two loci, the delta subunit of the T-cell antigen receptor gene and the LIM domain binding 1 gene. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2012]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1213248310 | 11:8,246,185 | G/A | — | uncertain significance |
| rs2134505216 | 11:8,246,249 | A/T | — | uncertain significance |
| rs7952320 | 11:8,250,143 | G/C | intron variant | — |
| rs4758317 | 11:8,250,811 | C/A | regulatory region variant | — |
| rs776473765 | 11:8,251,899 | C/T | — | uncertain significance |
| rs373948501 | 11:8,251,959 | A/C | — | uncertain significance |
| rs780502676 | 11:8,252,031 | G/T | — | uncertain significance |
| rs110419 | 11:8,252,853 | A/G | intron variant | — |
| rs2168101 | 11:8,255,408 | C/A | regulatory region variant | benign |
| rs442264 | 11:8,264,149 | G/T | — | — |
| rs484161 | 11:8,264,525 | T/G | — | — |
| rs533957769 | 11:8,264,987 | A/C | — | — |
| rs3794012 | 11:8,270,244 | T/C | intron variant | — |
| rs4237770 | 11:8,275,835 | T/G | — | — |
| rs11041829 | 11:8,276,735 | A/T | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.