AFP
alpha fetoprotein
Summary
This gene encodes alpha-fetoprotein, a major plasma protein produced by the yolk sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often associated with hepatocarcinoma and with teratoma, and has prognostic value for managing advanced gastric cancer. However, hereditary persistance of alpha-fetoprotein may also be found in individuals with no obvious pathology. The protein is thought to be the fetal counterpart of serum albumin, and the alpha-fetoprotein and albumin genes are present in tandem in the same transcriptional orientation on chromosome 4. Alpha-fetoprotein is found in monomeric as well as dimeric and trimeric forms, and binds copper, nickel, fatty acids and bilirubin. The level of alpha-fetoprotein in amniotic fluid is used to measure renal loss of protein to screen for spina bifida and anencephaly. [provided by RefSeq, Oct 2019]
Known Variants56 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4024 | 4:74,301,384 | G/A | upstream gene variant | — |
| rs6834059 | 4:74,301,675 | C/G | regulatory region variant | — |
| rs587776861 | 4:74,301,817 | G/A | — | affects |
| rs1719498256 | 4:74,301,881 | C/A | — | affects |
| rs3796678 | 4:74,302,071 | T/G | — | — |
| rs3796677 | 4:74,302,151 | A/T | intron variant | — |
| rs3796676 | 4:74,302,215 | T/A | intron variant | — |
| rs28532518 | 4:74,302,541 | T/A | — | — |
| rs146576905 | 4:74,303,902 | T/A | — | likely benign |
| rs753280044 | 4:74,306,334 | G/A | — | uncertain significance |
| rs115932512 | 4:74,306,373 | G/C | — | benign |
| rs764357434 | 4:74,306,442 | A/C | — | uncertain significance |
| rs200305333 | 4:74,306,447 | A/G | — | likely benign |
| rs568296633 | 4:74,306,449 | C/T | — | uncertain significance |
| rs544601167 | 4:74,306,454 | A/T | — | uncertain significance |
| rs371770284 | 4:74,306,466 | C/A | — | uncertain significance |
| rs374723455 | 4:74,306,476 | A/C | — | uncertain significance |
| rs121912685 | 4:74,308,073 | G/A | stop gained | pathogenic |
| rs754454295 | 4:74,308,080 | C/T | — | uncertain significance |
| rs200267486 | 4:74,309,160 | A/C | — | uncertain significance |
| rs748938017 | 4:74,310,705 | C/T | — | likely benign |
| rs2476178786 | 4:74,310,819 | C/G | — | uncertain significance |
| rs2298839 | 4:74,310,844 | A/G | splice region variant | — |
| rs72647033 | 4:74,313,053 | C/T | intron variant | — |
| rs7667494 | 4:74,313,169 | T/C | — | benign |
| rs28482344 | 4:74,313,193 | C/T | — | benign |
| rs144523159 | 4:74,313,216 | C/T | — | likely benign |
| rs1484182249 | 4:74,313,267 | G/A | — | uncertain significance |
| rs967861911 | 4:74,313,276 | T/C | — | uncertain significance |
| rs2476182577 | 4:74,313,279 | T/C | — | uncertain significance |
| rs2476182634 | 4:74,313,297 | A/C | — | uncertain significance |
| rs188021984 | 4:74,313,380 | A/G | — | uncertain significance |
| rs373915432 | 4:74,315,164 | C/G | — | uncertain significance |
| rs140788572 | 4:74,316,376 | C/T | — | uncertain significance |
| rs1894264 | 4:74,316,377 | G/A | — | benign |
| rs145185829 | 4:74,316,431 | A/G | — | likely benign |
| rs376466369 | 4:74,316,469 | C/T | — | uncertain significance |
| rs737241 | 4:74,316,729 | G/C | — | — |
| rs1420244947 | 4:74,318,128 | T/C | — | uncertain significance |
| rs144799463 | 4:74,318,135 | A/G | — | likely benign |
| rs776455064 | 4:74,318,155 | A/C | — | uncertain significance |
| rs200600473 | 4:74,318,222 | C/T | — | likely benign |
| rs781136890 | 4:74,318,283 | A/G | — | uncertain significance |
| rs745610100 | 4:74,318,288 | C/G | — | uncertain significance |
| rs144607501 | 4:74,318,310 | C/A | — | uncertain significance |
| rs114970091 | 4:74,318,329 | C/T | — | benign |
| rs12506899 | 4:74,319,283 | T/A | — | — |
| rs559954078 | 4:74,319,503 | G/C | — | uncertain significance |
| rs2476194533 | 4:74,319,522 | G/C | — | uncertain significance |
| rs1483558292 | 4:74,319,596 | A/T | — | uncertain significance |
| rs771672111 | 4:74,320,983 | G/T | — | uncertain significance |
| rs146692547 | 4:74,320,989 | G/A | — | likely pathogenic |
| rs182003350 | 4:74,321,009 | T/C | — | likely benign |
| rs72647039 | 4:74,321,365 | C/T | 3 prime UTR variant | — |
| rs10020432 | 4:74,321,600 | A/G | 3 prime UTR variant | — |
| rs75738725 | 4:74,321,780 | T/C | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.