LASP1
LIM and SH3 protein 1
Summary
This gene encodes a member of a subfamily of LIM proteins, characterized by a LIM motif and a domain of Src homology region 3, and also a member of the nebulin family of actin-binding proteins. The encoded protein is a cAMP and cGMP dependent signaling protein and binds to the actin cytoskeleton at extensions of the cell membrane. The encoded protein has been linked to metastatic breast cancer, hematopoetic tumors such as B-cell lymphomas, and colorectal cancer. [provided by RefSeq, Oct 2012]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs141320621 | 17:37,034,365 | C/T | — | benign |
| rs746452006 | 17:37,046,714 | C/T | — | uncertain significance |
| rs2509080167 | 17:37,054,720 | C/T | — | uncertain significance |
| rs1237348127 | 17:37,054,731 | G/A | — | uncertain significance |
| rs557304586 | 17:37,055,065 | G/A | — | — |
| rs640306 | 17:37,067,261 | T/C | intron variant | — |
| rs749988404 | 17:37,070,611 | A/G | — | uncertain significance |
| rs61739902 | 17:37,070,654 | A/T | — | uncertain significance |
| rs771967177 | 17:37,070,714 | C/T | — | uncertain significance |
| rs372974308 | 17:37,070,715 | G/A | — | likely benign |
| rs149423570 | 17:37,071,371 | T/C | — | uncertain significance |
| rs779122230 | 17:37,071,382 | G/A | — | uncertain significance |
| rs757228800 | 17:37,071,391 | G/C | — | uncertain significance |
| rs8073093 | 17:37,074,869 | C/T | — | benign |
| rs1260357693 | 17:37,074,954 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.