IGF2BP1
insulin like growth factor 2 mRNA binding protein 1
Summary
This gene encodes a member of the insulin-like growth factor 2 mRNA-binding protein family. The protein encoded by this gene contains four K homology domains and two RNA recognition motifs. It functions by binding to the mRNAs of certain genes, including insulin-like growth factor 2, beta-actin and beta-transducin repeat-containing protein, and regulating their translation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11650936 | 17:47,072,261 | C/G | regulatory region variant | — |
| rs9907062 | 17:47,076,468 | T/C | — | benign |
| rs2508862044 | 17:47,076,527 | C/A | — | uncertain significance |
| rs1948513 | 17:47,076,557 | G/C | regulatory region variant | — |
| rs1994969 | 17:47,080,431 | G/T | downstream gene variant | — |
| rs9674544 | 17:47,084,711 | G/C | — | — |
| rs9906944 | 17:47,091,420 | C/T | regulatory region variant | — |
| rs9902512 | 17:47,094,274 | C/G | regulatory region variant | — |
| rs141422475 | 17:47,103,860 | A/G | — | likely benign |
| rs9890081 | 17:47,103,993 | T/G | — | — |
| rs376942435 | 17:47,112,117 | A/G | — | — |
| rs201992274 | 17:47,112,118 | C/G | — | — |
| rs2509031483 | 17:47,115,675 | G/C | — | uncertain significance |
| rs2509031715 | 17:47,115,691 | C/T | — | uncertain significance |
| rs754194926 | 17:47,115,783 | C/T | — | uncertain significance |
| rs74548664 | 17:47,117,343 | C/T | — | benign |
| rs758955317 | 17:47,117,383 | C/T | — | uncertain significance |
| rs61751193 | 17:47,117,430 | T/A | — | benign |
| rs758305338 | 17:47,118,741 | G/T | — | uncertain significance |
| rs747039976 | 17:47,118,747 | G/A | — | uncertain significance |
| rs2509048555 | 17:47,118,796 | T/C | — | uncertain significance |
| rs557512533 | 17:47,119,659 | A/G | — | uncertain significance |
| rs2509052601 | 17:47,119,680 | G/A | — | uncertain significance |
| rs2509052639 | 17:47,119,693 | T/C | — | uncertain significance |
| rs771227164 | 17:47,119,704 | C/T | — | uncertain significance |
| rs2509052806 | 17:47,119,731 | G/C | — | uncertain significance |
| rs746264929 | 17:47,119,738 | G/A | — | uncertain significance |
| rs748846744 | 17:47,120,866 | C/A | — | uncertain significance |
| rs759245152 | 17:47,120,875 | G/A | — | uncertain significance |
| rs146124273 | 17:47,120,880 | G/A | — | uncertain significance |
| rs2509057323 | 17:47,120,899 | A/G | — | uncertain significance |
| rs778356223 | 17:47,121,338 | G/A | — | uncertain significance |
| rs757206543 | 17:47,123,334 | G/A | — | uncertain significance |
| rs955603212 | 17:47,126,763 | A/G | — | uncertain significance |
| rs149888111 | 17:47,126,795 | C/T | — | uncertain significance |
| rs6504593 | 17:47,132,819 | T/C | regulatory region variant | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.