PDCD1
programmed cell death 1
Summary
Programmed cell death protein 1 (PDCD1) is an immune-inhibitory receptor expressed in activated T cells; it is involved in the regulation of T-cell functions, including those of effector CD8+ T cells. In addition, this protein can also promote the differentiation of CD4+ T cells into T regulatory cells. PDCD1 is expressed in many types of tumors including melanomas, and has demonstrated to play a role in anti-tumor immunity. Moreover, this protein has been shown to be involved in safeguarding against autoimmunity, however, it can also contribute to the inhibition of effective anti-tumor and anti-microbial immunity. [provided by RefSeq, Aug 2020]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10204525 | 2:242,792,321 | C/T | regulatory region variant | benign |
| rs2227981 | 2:242,793,273 | A/G | synonymous variant | benign |
| rs2227982 | 2:242,793,433 | G/A | missense variant | benign |
| rs1444056935 | 2:242,793,444 | C/A | — | uncertain significance |
| rs6705653 | 2:242,793,559 | T/C | intron variant | benign |
| rs41386349 | 2:242,793,849 | G/A | intron variant | benign |
| rs11568821 | 2:242,793,912 | C/T | intron variant | benign |
| rs55829775 | 2:242,794,191 | G/C | — | benign |
| rs200312345 | 2:242,794,361 | C/T | — | uncertain significance |
| rs370660750 | 2:242,794,462 | G/C | — | likely benign |
| rs760386033 | 2:242,794,513 | G/A | — | likely benign |
| rs34819629 | 2:242,794,620 | C/T | — | benign |
| rs773116311 | 2:242,794,763 | G/A | — | likely benign |
| rs2469770599 | 2:242,794,862 | T/A | — | uncertain significance |
| rs777693230 | 2:242,794,865 | C/T | — | uncertain significance |
| rs7419333 | 2:242,795,312 | C/G | — | benign |
| rs7421861 | 2:242,795,350 | A/G | intron variant | benign |
| rs7419870 | 2:242,796,574 | G/A | intron variant | — |
| rs6710479 | 2:242,798,018 | T/C | intron variant | — |
| rs56211622 | 2:242,800,789 | C/G | — | benign |
| rs35933396 | 2:242,800,900 | G/A | — | benign |
| rs41513946 | 2:242,800,905 | C/T | — | benign |
| rs777215737 | 2:242,800,953 | G/A | — | uncertain significance |
| rs142544044 | 2:242,800,960 | C/T | — | uncertain significance |
| rs36084323 | 2:242,801,596 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.