MKLN1
muskelin 1
Summary
Muskelin is an intracellular protein that acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component thrombospondin I (MIM 188060) (Adams et al., 1998 [PubMed 9724633]).[supplied by OMIM, Mar 2008]
Known Variants33 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs114034759 | 7:130,812,963 | T/A | intron variant | — |
| rs11970875 | 7:130,884,601 | T/C | intron variant | — |
| rs10265216 | 7:130,900,121 | T/A | intron variant | — |
| rs2129562 | 7:130,963,559 | A/G | intron variant | — |
| rs9719620 | 7:130,994,380 | T/C | downstream gene variant | — |
| rs34281554 | 7:130,996,614 | A/C | intron variant | — |
| rs71578952 | 7:131,001,466 | T/C | intron variant | — |
| rs763011266 | 7:131,012,675 | C/T | — | uncertain significance |
| rs200265321 | 7:131,012,684 | C/T | — | uncertain significance |
| rs913197197 | 7:131,012,690 | C/T | — | uncertain significance |
| rs573781125 | 7:131,013,425 | C/T | — | — |
| rs7807274 | 7:131,021,099 | G/A | regulatory region variant | — |
| rs12706973 | 7:131,024,681 | A/T | — | — |
| rs13238550 | 7:131,059,056 | G/A | regulatory region variant | — |
| rs771388263 | 7:131,082,110 | A/G | — | uncertain significance |
| rs2485935500 | 7:131,084,127 | A/G | — | uncertain significance |
| rs745435997 | 7:131,096,109 | C/G | — | uncertain significance |
| rs749274259 | 7:131,096,131 | A/G | — | uncertain significance |
| rs3847109 | 7:131,103,474 | G/A | regulatory region variant | — |
| rs769778803 | 7:131,113,803 | T/A | — | uncertain significance |
| rs1421823990 | 7:131,113,856 | T/A | — | uncertain significance |
| rs984891913 | 7:131,122,679 | A/G | — | uncertain significance |
| rs993373649 | 7:131,122,691 | A/G | — | uncertain significance |
| rs1320037990 | 7:131,128,394 | A/T | — | uncertain significance |
| rs1267784333 | 7:131,130,617 | C/T | — | uncertain significance |
| rs1648441 | 7:131,146,867 | T/C | intron variant | — |
| rs1796568799 | 7:131,147,984 | A/T | — | uncertain significance |
| rs2486060676 | 7:131,148,057 | A/T | — | uncertain significance |
| rs770008339 | 7:131,151,134 | T/G | — | uncertain significance |
| rs761607150 | 7:131,155,690 | A/G | — | uncertain significance |
| rs13244567 | 7:131,160,688 | G/C | — | — |
| rs564186575 | 7:131,163,415 | G/A | — | uncertain significance |
| rs762357077 | 7:131,172,405 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.