PFKP
phosphofructokinase, platelet
Summary
This gene encodes a member of the phosphofructokinase A protein family. The encoded enzyme is the platelet-specific isoform of phosphofructokinase and plays a key role in glycolysis regulation. This gene may play a role in metabolic reprogramming in some cancers, including clear cell renal cell carcinomas, and cancer of the bladder, breast, and lung. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Known Variants89 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs984216789 | 10:3,109,809 | G/C | — | uncertain significance |
| rs922725563 | 10:3,109,869 | G/A | — | uncertain significance |
| rs11251695 | 10:3,116,019 | T/C | — | — |
| rs11251696 | 10:3,116,052 | C/A | — | — |
| rs56882221 | 10:3,138,477 | G/T | regulatory region variant | — |
| rs61835134 | 10:3,138,996 | T/C | intron variant | — |
| rs61835136 | 10:3,139,008 | T/C | intron variant | — |
| rs113344952 | 10:3,139,180 | G/A | — | — |
| rs566372607 | 10:3,139,188 | G/T | — | — |
| rs11251714 | 10:3,139,219 | A/C | — | — |
| rs111622195 | 10:3,139,261 | C/T | — | — |
| rs201714163 | 10:3,141,487 | C/T | — | likely benign |
| rs565751941 | 10:3,141,491 | G/A | — | uncertain significance |
| rs534446586 | 10:3,141,522 | G/A | — | uncertain significance |
| rs899053868 | 10:3,141,542 | G/A | — | uncertain significance |
| rs376660415 | 10:3,143,600 | C/T | — | uncertain significance |
| rs61760976 | 10:3,143,603 | G/A | — | uncertain significance |
| rs765820836 | 10:3,143,611 | C/T | — | uncertain significance |
| rs1329884849 | 10:3,143,629 | A/C | — | uncertain significance |
| rs1834986512 | 10:3,143,636 | T/A | — | uncertain significance |
| rs748455030 | 10:3,143,644 | G/A | — | uncertain significance |
| rs753934996 | 10:3,143,680 | A/G | — | uncertain significance |
| rs1228398986 | 10:3,143,700 | C/T | — | likely benign |
| rs138856118 | 10:3,143,705 | G/A | — | uncertain significance |
| rs779469917 | 10:3,145,975 | G/C | — | uncertain significance |
| rs148155144 | 10:3,145,978 | C/T | — | benign |
| rs140122747 | 10:3,146,001 | A/G | — | uncertain significance |
| rs763008329 | 10:3,146,004 | C/A | — | uncertain significance |
| rs79051586 | 10:3,146,038 | C/T | — | benign |
| rs61760977 | 10:3,146,053 | C/T | — | benign |
| rs935422168 | 10:3,146,088 | T/C | — | uncertain significance |
| rs373214698 | 10:3,146,143 | C/T | — | likely benign |
| rs111575676 | 10:3,147,581 | A/G | — | benign |
| rs141331919 | 10:3,147,621 | G/A | — | likely benign |
| rs146994605 | 10:3,147,633 | C/T | — | likely benign |
| rs200224299 | 10:3,147,673 | A/C | — | uncertain significance |
| rs749023490 | 10:3,147,689 | C/T | — | uncertain significance |
| rs144604806 | 10:3,147,690 | G/A | — | likely benign |
| rs150395911 | 10:3,149,415 | C/T | — | uncertain significance |
| rs2491235816 | 10:3,149,455 | C/A | — | uncertain significance |
| rs769132292 | 10:3,150,951 | G/A | — | uncertain significance |
| rs11542780 | 10:3,150,961 | C/T | — | benign |
| rs1835936696 | 10:3,151,595 | C/G | — | uncertain significance |
| rs11542779 | 10:3,151,627 | C/T | — | benign |
| rs201442844 | 10:3,151,644 | G/A | — | uncertain significance |
| rs577785835 | 10:3,151,650 | C/T | — | uncertain significance |
| rs7896691 | 10:3,155,173 | C/T | intron variant | — |
| rs6602024 | 10:3,155,237 | A/G | intron variant | — |
| rs778429333 | 10:3,155,568 | A/G | — | uncertain significance |
| rs147848044 | 10:3,155,570 | T/A | — | uncertain significance |
| rs757759144 | 10:3,155,619 | C/T | — | uncertain significance |
| rs750792751 | 10:3,155,622 | C/G | — | uncertain significance |
| rs748902472 | 10:3,155,624 | G/A | — | uncertain significance |
| rs764600497 | 10:3,155,657 | G/A | — | uncertain significance |
| rs753541438 | 10:3,155,672 | G/A | — | uncertain significance |
| rs746881107 | 10:3,155,699 | G/A | — | uncertain significance |
| rs770888706 | 10:3,155,702 | A/C | — | uncertain significance |
| rs762732433 | 10:3,159,007 | G/A | — | uncertain significance |
| rs2491355575 | 10:3,160,978 | C/T | — | uncertain significance |
| rs749499132 | 10:3,161,036 | C/T | — | uncertain significance |
| rs41288721 | 10:3,162,130 | A/G | — | likely benign |
| rs199544859 | 10:3,162,192 | G/A | — | uncertain significance |
| rs61731929 | 10:3,162,203 | C/T | — | benign |
| rs200145182 | 10:3,162,234 | G/A | — | uncertain significance |
| rs138559816 | 10:3,166,715 | G/A | intron variant | — |
| rs141301561 | 10:3,172,012 | C/A | — | uncertain significance |
| rs776858743 | 10:3,172,021 | G/A | — | uncertain significance |
| rs61731930 | 10:3,172,034 | C/T | — | benign |
| rs61731932 | 10:3,172,118 | G/A | — | benign |
| rs76466861 | 10:3,172,157 | C/T | — | benign |
| rs1411129468 | 10:3,174,591 | C/T | — | uncertain significance |
| rs146726011 | 10:3,175,419 | C/T | — | benign |
| rs755601761 | 10:3,176,734 | G/A | — | uncertain significance |
| rs535785846 | 10:3,176,741 | A/G | — | uncertain significance |
| rs147826841 | 10:3,176,749 | A/G | — | benign |
| rs202088644 | 10:3,176,765 | C/T | — | uncertain significance |
| rs200195369 | 10:3,176,783 | T/A | — | likely benign |
| rs776386142 | 10:3,177,937 | T/G | — | uncertain significance |
| rs61731934 | 10:3,177,944 | C/T | — | benign |
| rs770151566 | 10:3,177,945 | G/A | — | uncertain significance |
| rs2491551718 | 10:3,177,946 | A/G | — | uncertain significance |
| rs146709282 | 10:3,177,979 | G/A | — | uncertain significance |
| rs61731935 | 10:3,178,003 | C/T | — | uncertain significance |
| rs141790764 | 10:3,178,014 | A/C | — | likely benign |
| rs61731936 | 10:3,178,022 | G/T | — | benign |
| rs34180069 | 10:3,178,723 | C/T | — | benign |
| rs562235338 | 10:3,178,724 | G/A | — | uncertain significance |
| rs76887485 | 10:3,178,729 | G/A | — | benign |
| rs149329215 | 10:3,178,766 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.