TMOD2
tropomodulin 2
Summary
This gene encodes a neuronal-specific member of the tropomodulin family of actin-regulatory proteins. The encoded protein caps the pointed end of actin filaments preventing both elongation and depolymerization. The capping activity of this protein is dependent on its association with tropomyosin. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2008]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs200424494 | 15:52,058,678 | A/G | — | uncertain significance |
| rs751527695 | 15:52,058,690 | G/A | — | uncertain significance |
| rs149315070 | 15:52,060,498 | A/G | — | uncertain significance |
| rs376066115 | 15:52,060,516 | G/A | — | uncertain significance |
| rs746345679 | 15:52,060,529 | G/A | — | uncertain significance |
| rs114844653 | 15:52,065,948 | G/A | — | likely benign |
| rs760064802 | 15:52,066,013 | G/A | — | uncertain significance |
| rs2548948720 | 15:52,066,025 | C/A | — | uncertain significance |
| rs1329894740 | 15:52,069,134 | C/G | — | uncertain significance |
| rs372501706 | 15:52,073,321 | A/T | — | uncertain significance |
| rs494447 | 15:52,074,020 | A/T | — | — |
| rs371235651 | 15:52,074,927 | A/G | — | uncertain significance |
| rs781744279 | 15:52,074,972 | C/G | — | uncertain significance |
| rs778478187 | 15:52,074,979 | A/G | — | uncertain significance |
| rs757712488 | 15:52,074,983 | G/T | — | uncertain significance |
| rs2548951237 | 15:52,075,000 | C/T | — | uncertain significance |
| rs774320183 | 15:52,075,023 | A/G | — | uncertain significance |
| rs769672069 | 15:52,090,405 | C/G | — | uncertain significance |
| rs772288429 | 15:52,090,436 | C/G | — | uncertain significance |
| rs372480257 | 15:52,090,461 | C/A | — | uncertain significance |
| rs765730429 | 15:52,090,482 | T/G | — | uncertain significance |
| rs372140666 | 15:52,098,583 | T/G | — | uncertain significance |
| rs373624853 | 15:52,098,600 | G/T | — | uncertain significance |
| rs187701343 | 15:52,098,617 | T/C | — | uncertain significance |
| rs146455002 | 15:52,098,656 | A/G | — | uncertain significance |
| rs2548957577 | 15:52,100,635 | A/T | — | uncertain significance |
| rs2623258 | 15:52,101,594 | T/A | 3 prime UTR variant | — |
| rs182808208 | 15:52,102,668 | C/G | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.