TGFA
transforming growth factor alpha
Summary
This gene encodes a growth factor that is a ligand for the epidermal growth factor receptor, which activates a signaling pathway for cell proliferation, differentiation and development. This protein may act as either a transmembrane-bound ligand or a soluble ligand. This gene has been associated with many types of cancers, and it may also be involved in some cases of cleft lip/palate. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Known Variants43 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11466285 | 2:70,677,439 | A/C | — | — |
| rs3771523 | 2:70,677,468 | C/T | 3 prime UTR variant | — |
| rs2166975 | 2:70,677,994 | G/A | synonymous variant | — |
| rs1553489518 | 2:70,678,007 | A/G | — | likely benign |
| rs1181697045 | 2:70,680,353 | T/G | — | uncertain significance |
| rs782326575 | 2:70,680,370 | G/T | — | uncertain significance |
| rs1227430130 | 2:70,680,385 | A/T | — | uncertain significance |
| rs781826380 | 2:70,680,404 | C/T | — | uncertain significance |
| rs1416150018 | 2:70,680,419 | G/A | — | uncertain significance |
| rs11466259 | 2:70,683,511 | C/T | — | benign |
| rs570448487 | 2:70,683,532 | C/T | — | uncertain significance |
| rs140020331 | 2:70,683,560 | A/G | — | benign |
| rs148679837 | 2:70,683,604 | C/T | — | uncertain significance |
| rs6729950 | 2:70,690,134 | G/T | — | — |
| rs1574074499 | 2:70,692,738 | G/A | — | likely benign |
| rs782818852 | 2:70,692,835 | T/C | — | uncertain significance |
| rs3771514 | 2:70,697,667 | G/A | upstream gene variant | — |
| rs1851610 | 2:70,699,159 | T/C | upstream gene variant | — |
| rs958685 | 2:70,703,847 | C/T | — | — |
| rs3755384 | 2:70,704,511 | A/C | — | — |
| rs2122129 | 2:70,706,031 | A/C | — | — |
| rs2862851 | 2:70,712,802 | T/G | — | — |
| rs7561547 | 2:70,715,788 | C/A | — | — |
| rs3911078 | 2:70,717,087 | G/T | — | — |
| rs3771501 | 2:70,717,653 | A/G | intron variant | — |
| rs3755381 | 2:70,718,695 | T/G | — | — |
| rs3755380 | 2:70,719,020 | C/G | intron variant | — |
| rs3771498 | 2:70,720,070 | C/G | — | — |
| rs3771497 | 2:70,720,245 | A/G | — | — |
| rs3771494 | 2:70,725,352 | A/G | regulatory region variant | — |
| rs3755377 | 2:70,732,852 | A/T | — | — |
| rs454305 | 2:70,736,219 | A/G | intron variant | — |
| rs10178576 | 2:70,736,528 | T/C | regulatory region variant | — |
| rs370723372 | 2:70,741,999 | G/A | — | likely benign |
| rs10183171 | 2:70,742,022 | C/T | — | benign |
| rs11466221 | 2:70,742,048 | T/C | — | benign |
| rs3771485 | 2:70,756,291 | C/T | — | — |
| rs11466212 | 2:70,757,358 | A/G | intron variant | — |
| rs432203 | 2:70,764,688 | C/G | — | — |
| rs3771475 | 2:70,769,328 | T/C | intron variant | — |
| rs57452574 | 2:70,773,904 | C/G | intron variant | — |
| rs6708912 | 2:70,775,084 | C/A | intron variant | — |
| rs199781024 | 2:70,780,889 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.