PFKL
phosphofructokinase, liver type
Summary
This gene encodes the liver (L) subunit of an enzyme that catalyzes the conversion of D-fructose 6-phosphate to D-fructose 1,6-bisphosphate, which is a key step in glucose metabolism (glycolysis). This enzyme is a tetramer that may be composed of different subunits encoded by distinct genes in different tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Known Variants65 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs550375523 | 21:45,719,984 | C/T | — | benign |
| rs2517897562 | 21:45,720,019 | G/A | — | uncertain significance |
| rs1301222805 | 21:45,720,025 | G/T | — | uncertain significance |
| rs2236670 | 21:45,721,468 | C/A | downstream gene variant | — |
| rs9976073 | 21:45,721,710 | T/C | downstream gene variant | — |
| rs375427651 | 21:45,725,706 | C/T | — | benign |
| rs118169148 | 21:45,725,746 | T/C | — | benign |
| rs150271960 | 21:45,730,904 | G/A | — | uncertain significance |
| rs750335877 | 21:45,730,955 | A/G | — | uncertain significance |
| rs866116296 | 21:45,732,035 | G/C | — | uncertain significance |
| rs201919457 | 21:45,732,043 | G/A | — | uncertain significance |
| rs780307189 | 21:45,732,048 | G/A | — | likely benign |
| rs371821359 | 21:45,732,093 | G/A | — | uncertain significance |
| rs1057034 | 21:45,732,116 | T/C | — | benign |
| rs750482349 | 21:45,732,885 | G/A | — | likely benign |
| rs1465747037 | 21:45,732,886 | G/C | — | likely benign |
| rs150801043 | 21:45,732,905 | A/G | — | uncertain significance |
| rs762774250 | 21:45,733,564 | G/A | — | uncertain significance |
| rs1057037 | 21:45,733,867 | A/T | — | benign |
| rs61750224 | 21:45,733,911 | A/G | — | benign |
| rs373371133 | 21:45,736,136 | C/T | — | uncertain significance |
| rs138385754 | 21:45,736,137 | G/A | — | uncertain significance |
| rs150642566 | 21:45,736,184 | C/T | — | uncertain significance |
| rs780005703 | 21:45,736,188 | A/G | — | uncertain significance |
| rs570407433 | 21:45,736,190 | G/A | — | uncertain significance |
| rs762472967 | 21:45,736,208 | A/G | — | uncertain significance |
| rs2517970598 | 21:45,736,313 | A/G | — | uncertain significance |
| rs372280224 | 21:45,736,339 | G/A | — | uncertain significance |
| rs139920536 | 21:45,736,395 | C/T | — | likely benign |
| rs1202071239 | 21:45,736,396 | G/T | — | uncertain significance |
| rs142092923 | 21:45,738,376 | G/A | — | likely benign |
| rs147090120 | 21:45,738,403 | T/G | — | likely benign |
| rs762976454 | 21:45,738,408 | C/T | — | uncertain significance |
| rs369155274 | 21:45,738,411 | C/T | — | uncertain significance |
| rs756530116 | 21:45,738,419 | G/A | — | uncertain significance |
| rs370654012 | 21:45,741,661 | T/C | — | uncertain significance |
| rs150413035 | 21:45,741,671 | C/T | — | likely benign |
| rs138123944 | 21:45,741,688 | G/A | — | uncertain significance |
| rs765204695 | 21:45,742,037 | G/A | — | likely benign |
| rs750731287 | 21:45,742,059 | G/A | — | uncertain significance |
| rs199547282 | 21:45,742,840 | T/C | — | likely benign |
| rs142506467 | 21:45,743,688 | C/T | — | uncertain significance |
| rs1163175984 | 21:45,743,716 | G/A | — | uncertain significance |
| rs764817929 | 21:45,743,748 | C/A | — | uncertain significance |
| rs376047821 | 21:45,743,793 | G/A | — | uncertain significance |
| rs753142139 | 21:45,744,383 | C/T | — | uncertain significance |
| rs748033136 | 21:45,744,428 | G/A | — | uncertain significance |
| rs772997676 | 21:45,744,447 | A/G | — | uncertain significance |
| rs539532679 | 21:45,744,786 | G/A | — | benign |
| rs141250471 | 21:45,745,065 | C/A | — | uncertain significance |
| rs760398671 | 21:45,745,112 | G/A | — | uncertain significance |
| rs1602058152 | 21:45,745,115 | T/C | — | uncertain significance |
| rs1568974618 | 21:45,745,868 | C/T | — | uncertain significance |
| rs2518021229 | 21:45,745,903 | G/T | — | uncertain significance |
| rs775291794 | 21:45,745,938 | G/A | — | uncertain significance |
| rs147169525 | 21:45,745,940 | A/G | missense variant | — |
| rs144669255 | 21:45,746,067 | C/G | — | likely benign |
| rs779823260 | 21:45,746,077 | G/A | — | uncertain significance |
| rs17850433 | 21:45,746,102 | T/C | — | benign |
| rs548684867 | 21:45,746,543 | A/T | — | — |
| rs118106526 | 21:45,746,611 | C/T | — | conflicting classifications of pathogenicity |
| rs140555552 | 21:45,746,614 | G/A | — | uncertain significance |
| rs2518027480 | 21:45,746,681 | C/T | — | uncertain significance |
| rs146583875 | 21:45,746,685 | C/T | — | likely benign |
| rs756117858 | 21:45,746,714 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.