TMEM87B
transmembrane protein 87B
Summary
This gene encodes a protein that may interact with human papillomavirus type 18 E6 oncogene. The protein is also likely to be involved in endosome-to-trans-Golgi network retrograde transport. The gene is expressed in adult and fetal tissues, including brain and heart. This gene is a component of the 2q13 deletion syndrome. Mutations in this gene may be associated with congenital heart defects. [provided by RefSeq, Aug 2016]
Known Variants39 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs749230055 | 2:112,813,178 | G/T | — | uncertain significance |
| rs2466970116 | 2:112,813,185 | G/A | — | uncertain significance |
| rs772333086 | 2:112,813,208 | C/A | — | uncertain significance |
| rs762310705 | 2:112,813,274 | A/G | — | likely benign |
| rs62157782 | 2:112,813,892 | T/C | regulatory region variant | — |
| rs1270761973 | 2:112,821,762 | C/A | — | uncertain significance |
| rs2466990524 | 2:112,821,799 | A/G | — | uncertain significance |
| rs74677818 | 2:112,823,114 | C/G | — | — |
| rs10171979 | 2:112,823,320 | C/G | — | — |
| rs2466995578 | 2:112,824,528 | C/T | — | uncertain significance |
| rs1338696269 | 2:112,824,580 | G/T | — | uncertain significance |
| rs2466995744 | 2:112,824,586 | C/G | — | uncertain significance |
| rs1678456136 | 2:112,824,589 | C/A | — | uncertain significance |
| rs746818102 | 2:112,834,769 | G/C | — | uncertain significance |
| rs773385261 | 2:112,834,794 | A/T | — | uncertain significance |
| rs147529569 | 2:112,834,798 | G/A | — | likely benign |
| rs2467019395 | 2:112,834,833 | A/G | — | uncertain significance |
| rs759169505 | 2:112,838,912 | T/C | — | uncertain significance |
| rs755300036 | 2:112,838,926 | G/A | — | uncertain significance |
| rs753727567 | 2:112,838,930 | A/G | — | uncertain significance |
| rs374641751 | 2:112,838,964 | C/T | — | likely benign |
| rs143054830 | 2:112,843,630 | C/T | — | uncertain significance |
| rs758215345 | 2:112,843,653 | A/C | — | uncertain significance |
| rs773234250 | 2:112,843,654 | T/C | — | uncertain significance |
| rs774444715 | 2:112,847,207 | G/A | — | uncertain significance |
| rs757629241 | 2:112,847,228 | G/A | — | uncertain significance |
| rs1244465943 | 2:112,847,237 | G/C | — | uncertain significance |
| rs2467043596 | 2:112,847,294 | G/A | — | uncertain significance |
| rs750171152 | 2:112,849,358 | T/C | — | uncertain significance |
| rs2467059521 | 2:112,854,650 | G/T | — | uncertain significance |
| rs774828905 | 2:112,854,701 | T/A | — | uncertain significance |
| rs751342609 | 2:112,854,815 | A/G | — | likely benign |
| rs139530431 | 2:112,854,816 | T/C | — | uncertain significance |
| rs780710696 | 2:112,856,184 | C/T | — | uncertain significance |
| rs769088454 | 2:112,856,221 | C/T | — | uncertain significance |
| rs369634007 | 2:112,856,265 | A/G | missense variant | pathogenic |
| rs755257040 | 2:112,858,199 | A/C | — | uncertain significance |
| rs1014612485 | 2:112,865,398 | C/G | — | uncertain significance |
| rs765011904 | 2:112,873,712 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.