LCP1
lymphocyte cytosolic protein 1
Summary
Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). However, L-plastin has been found in many types of malignant human cells of non-hemopoietic origin suggesting that its expression is induced accompanying tumorigenesis in solid tissues. [provided by RefSeq, Jul 2008]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4391952 | 13:46,701,174 | G/C | regulatory region variant | — |
| rs372063901 | 13:46,701,767 | C/T | — | uncertain significance |
| rs748693517 | 13:46,701,769 | G/A | — | uncertain significance |
| rs2500584015 | 13:46,701,809 | G/A | — | uncertain significance |
| rs761106055 | 13:46,701,821 | C/A | — | uncertain significance |
| rs7324845 | 13:46,703,142 | G/A | intron variant | — |
| rs769502119 | 13:46,705,066 | T/C | — | uncertain significance |
| rs17067725 | 13:46,705,070 | G/C | — | benign |
| rs9534336 | 13:46,706,926 | C/G | intron variant | — |
| rs2500597653 | 13:46,708,290 | T/C | — | uncertain significance |
| rs758410524 | 13:46,712,818 | G/T | — | — |
| rs80266547 | 13:46,716,418 | C/A | — | benign |
| rs148313135 | 13:46,717,474 | T/C | — | uncertain significance |
| rs1376923782 | 13:46,721,095 | G/T | — | pathogenic |
| rs200623636 | 13:46,721,177 | C/T | — | uncertain significance |
| rs138348092 | 13:46,721,178 | G/A | — | uncertain significance |
| rs778176739 | 13:46,722,513 | C/T | — | uncertain significance |
| rs77916369 | 13:46,723,268 | T/C | intron variant | — |
| rs149634075 | 13:46,725,163 | G/T | — | uncertain significance |
| rs778077497 | 13:46,729,014 | T/C | — | uncertain significance |
| rs369159134 | 13:46,730,626 | C/T | — | uncertain significance |
| rs200170179 | 13:46,730,642 | C/T | — | uncertain significance |
| rs535799904 | 13:46,732,681 | C/T | — | uncertain significance |
| rs760743450 | 13:46,732,765 | T/C | — | uncertain significance |
| rs117014375 | 13:46,733,070 | G/A | — | benign |
| rs144158785 | 13:46,733,094 | T/C | — | uncertain significance |
| rs918436459 | 13:46,733,776 | C/T | — | uncertain significance |
| rs137941114 | 13:46,753,027 | T/G | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.