TP73
tumor protein p73
Summary
This gene encodes a member of the p53 family of transcription factors involved in cellular responses to stress and development. It maps to a region on chromosome 1p36 that is frequently deleted in neuroblastoma and other tumors, and thought to contain multiple tumor suppressor genes. The demonstration that this gene is monoallelically expressed (likely from the maternal allele), supports the notion that it is a candidate gene for neuroblastoma. Many transcript variants resulting from alternative splicing and/or use of alternate promoters have been found for this gene, but the biological validity and the full-length nature of some variants have not been determined. [provided by RefSeq, Feb 2011]
Known Variants58 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs559868254 | 1:3,580,640 | C/A | — | — |
| rs2273953 | 1:3,598,900 | G/T | 5 prime UTR variant | — |
| rs1801173 | 1:3,598,910 | C/T | 5 prime UTR variant | benign |
| rs745657321 | 1:3,598,933 | G/T | — | likely benign |
| rs192866394 | 1:3,598,961 | G/T | — | uncertain significance |
| rs141679680 | 1:3,599,003 | G/A | — | benign |
| rs146385419 | 1:3,599,694 | G/A | — | uncertain significance |
| rs777629878 | 1:3,599,731 | C/G | — | uncertain significance |
| rs199602778 | 1:3,599,751 | G/A | — | benign |
| rs367573010 | 1:3,607,482 | G/A | — | likely benign |
| rs3765731 | 1:3,611,892 | G/T | — | — |
| rs372189156 | 1:3,624,255 | C/T | — | uncertain significance |
| rs2524664060 | 1:3,624,276 | C/T | — | uncertain significance |
| rs150280219 | 1:3,624,334 | G/A | — | benign |
| rs4648551 | 1:3,632,730 | G/A | upstream gene variant | — |
| rs765888000 | 1:3,638,658 | C/A | — | uncertain significance |
| rs1801174 | 1:3,638,674 | T/C | — | benign |
| rs2124478772 | 1:3,638,768 | G/T | — | pathogenic |
| rs1641258056 | 1:3,639,960 | A/G | — | uncertain significance |
| rs61736981 | 1:3,643,681 | G/A | — | benign |
| rs140541850 | 1:3,643,687 | G/A | — | likely benign |
| rs2524929929 | 1:3,643,766 | A/T | — | uncertain significance |
| rs2524930083 | 1:3,643,778 | G/C | — | uncertain significance |
| rs988674658 | 1:3,644,209 | G/A | — | uncertain significance |
| rs986713005 | 1:3,644,250 | G/A | — | uncertain significance |
| rs772181924 | 1:3,644,307 | G/A | — | uncertain significance |
| rs1209573782 | 1:3,644,314 | A/T | — | uncertain significance |
| rs61737710 | 1:3,644,322 | G/A | — | benign |
| rs369265280 | 1:3,644,332 | G/A | — | uncertain significance |
| rs2181486 | 1:3,644,349 | G/A | — | benign |
| rs2124524068 | 1:3,644,701 | C/T | — | pathogenic |
| rs12046074 | 1:3,644,715 | C/T | — | benign |
| rs12048341 | 1:3,644,754 | T/C | — | benign |
| rs779452461 | 1:3,645,944 | G/C | — | uncertain significance |
| rs1166295144 | 1:3,645,954 | T/G | — | uncertain significance |
| rs2124532906 | 1:3,645,976 | A/C | — | uncertain significance |
| rs61736049 | 1:3,645,989 | G/A | — | benign |
| rs2124533497 | 1:3,646,013 | G/A | — | pathogenic |
| rs139554277 | 1:3,646,621 | C/T | — | benign |
| rs760067757 | 1:3,646,683 | C/T | — | uncertain significance |
| rs1160589083 | 1:3,646,706 | C/T | — | uncertain significance |
| rs751239958 | 1:3,646,709 | G/A | — | uncertain significance |
| rs747224214 | 1:3,647,496 | G/A | — | uncertain significance |
| rs1431406542 | 1:3,647,521 | C/T | — | uncertain significance |
| rs2525017797 | 1:3,648,100 | C/G | — | uncertain significance |
| rs780654718 | 1:3,649,344 | C/T | — | uncertain significance |
| rs139568604 | 1:3,649,411 | T/C | — | uncertain significance |
| rs530648280 | 1:3,649,416 | C/T | — | uncertain significance |
| rs116174056 | 1:3,649,421 | T/C | — | benign |
| rs775611773 | 1:3,649,446 | G/A | — | uncertain significance |
| rs138694448 | 1:3,649,488 | G/A | — | likely benign |
| rs746931369 | 1:3,649,500 | G/T | — | uncertain significance |
| rs201509863 | 1:3,649,503 | C/T | — | uncertain significance |
| rs1402767646 | 1:3,649,553 | C/G | — | likely benign |
| rs9662633 | 1:3,649,562 | G/A | synonymous variant | — |
| rs113253012 | 1:3,649,608 | A/G | — | likely benign |
| rs12562437 | 1:3,651,031 | C/A | — | — |
| rs10910018 | 1:3,651,409 | G/A | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.