LIMA1
LIM domain and actin binding 1
Summary
This gene encodes a cytoskeleton-associated protein that inhibits actin filament depolymerization and cross-links filaments in bundles. It is downregulated in some cancer cell lines. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and expression of some of the variants maybe independently regulated. [provided by RefSeq, Aug 2011]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs757059799 | 12:50,570,906 | A/C | — | uncertain significance |
| rs762547850 | 12:50,571,004 | G/A | — | uncertain significance |
| rs1204524485 | 12:50,571,028 | T/C | — | uncertain significance |
| rs137923781 | 12:50,571,040 | T/G | — | uncertain significance |
| rs147543382 | 12:50,571,079 | C/T | — | uncertain significance |
| rs2539843645 | 12:50,571,129 | A/C | — | uncertain significance |
| rs1940366700 | 12:50,571,156 | T/G | — | uncertain significance |
| rs2539844561 | 12:50,571,278 | T/C | — | uncertain significance |
| rs2539844772 | 12:50,571,319 | T/G | — | uncertain significance |
| rs756628778 | 12:50,571,431 | C/T | — | uncertain significance |
| rs761889209 | 12:50,571,523 | G/T | — | uncertain significance |
| rs139548333 | 12:50,571,536 | C/T | — | uncertain significance |
| rs368038643 | 12:50,571,605 | T/A | — | uncertain significance |
| rs769792233 | 12:50,571,635 | T/C | — | uncertain significance |
| rs557631620 | 12:50,571,691 | G/A | — | uncertain significance |
| rs1163674612 | 12:50,571,716 | T/C | — | uncertain significance |
| rs2539847104 | 12:50,571,832 | A/G | — | uncertain significance |
| rs34245511 | 12:50,573,433 | G/C | intron variant | — |
| rs11169306 | 12:50,584,495 | T/C | — | — |
| rs142007630 | 12:50,586,275 | G/A | — | uncertain significance |
| rs369164140 | 12:50,586,293 | A/C | — | uncertain significance |
| rs200957875 | 12:50,589,674 | C/A | — | likely benign |
| rs10219559 | 12:50,595,445 | T/C | intron variant | — |
| rs370430368 | 12:50,598,456 | G/A | — | likely benign |
| rs3861100 | 12:50,599,219 | A/G | intron variant | — |
| rs762165918 | 12:50,599,796 | T/C | — | uncertain significance |
| rs199735854 | 12:50,599,845 | G/A | — | uncertain significance |
| rs543451168 | 12:50,615,806 | T/C | — | uncertain significance |
| rs746340687 | 12:50,615,886 | G/T | — | uncertain significance |
| rs1592532470 | 12:50,615,894 | G/T | — | uncertain significance |
| rs2539965079 | 12:50,615,899 | C/T | — | uncertain significance |
| rs2539965382 | 12:50,615,983 | G/T | — | uncertain significance |
| rs144312856 | 12:50,616,022 | C/T | — | likely benign |
| rs375473793 | 12:50,616,049 | T/G | — | likely benign |
| rs779269873 | 12:50,616,141 | C/A | — | uncertain significance |
| rs746415602 | 12:50,616,163 | G/A | — | uncertain significance |
| rs139678259 | 12:50,616,164 | T/C | — | likely benign |
| rs371640954 | 12:50,616,174 | G/C | — | uncertain significance |
| rs528872075 | 12:50,616,197 | T/C | — | benign |
| rs2539966936 | 12:50,616,244 | A/C | — | uncertain significance |
| rs145609695 | 12:50,625,452 | C/A | — | uncertain significance |
| rs140372565 | 12:50,642,462 | G/T | — | association |
| rs780877633 | 12:50,642,510 | G/A | — | uncertain significance |
| rs538515780 | 12:50,666,299 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.