TMOD1
tropomodulin 1
Summary
This gene encodes a member of the tropomodulin family. The encoded protein is an actin-capping protein that regulates tropomyosin by binding to its N-terminus, inhibiting depolymerization and elongation of the pointed end of actin filaments and thereby influencing the structure of the erythrocyte membrane skeleton. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2009]
Known Variants19 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1052270 | 9:100,275,424 | C/A | coding sequence variant | — |
| rs2490872515 | 9:100,308,471 | C/T | — | uncertain significance |
| rs767864969 | 9:100,308,486 | G/C | — | uncertain significance |
| rs369490245 | 9:100,308,516 | C/T | — | uncertain significance |
| rs534015511 | 9:100,308,522 | C/T | — | uncertain significance |
| rs7852462 | 9:100,310,501 | C/A | — | — |
| rs1475545 | 9:100,316,230 | C/T | intron variant | — |
| rs139897307 | 9:100,326,357 | C/T | — | likely benign |
| rs766826917 | 9:100,326,397 | C/T | — | uncertain significance |
| rs1830688870 | 9:100,326,408 | C/G | — | uncertain significance |
| rs144800521 | 9:100,328,214 | C/T | — | uncertain significance |
| rs2490932285 | 9:100,331,194 | A/G | — | uncertain significance |
| rs766065830 | 9:100,331,266 | G/A | — | uncertain significance |
| rs1475543 | 9:100,333,671 | C/T | — | — |
| rs149793710 | 9:100,339,200 | C/T | intron variant | — |
| rs56237852 | 9:100,343,212 | C/A | intron variant | — |
| rs981892317 | 9:100,353,682 | G/A | — | uncertain significance |
| rs369252027 | 9:100,353,709 | A/G | — | uncertain significance |
| rs771571898 | 9:100,361,934 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.