PKLR
pyruvate kinase L/R
Summary
The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants269 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs917244300 | 1:155,259,086 | C/T | — | uncertain significance |
| rs937795186 | 1:155,259,258 | C/T | — | uncertain significance |
| rs559809916 | 1:155,259,296 | A/G | — | uncertain significance |
| rs528740550 | 1:155,259,322 | G/A | — | uncertain significance |
| rs8847 | 1:155,259,323 | C/T | — | benign |
| rs41264939 | 1:155,259,470 | A/C | — | uncertain significance |
| rs886045347 | 1:155,259,497 | A/G | — | uncertain significance |
| rs886045348 | 1:155,259,584 | G/T | — | uncertain significance |
| rs1674455124 | 1:155,259,608 | A/G | — | uncertain significance |
| rs180944719 | 1:155,259,628 | T/C | — | uncertain significance |
| rs758139094 | 1:155,259,781 | C/T | — | uncertain significance |
| rs1674463281 | 1:155,259,863 | G/A | — | uncertain significance |
| rs777573500 | 1:155,259,864 | C/T | — | uncertain significance |
| rs1674470980 | 1:155,260,007 | A/G | — | uncertain significance |
| rs886045349 | 1:155,260,012 | A/T | — | uncertain significance |
| rs879040355 | 1:155,260,021 | G/A | — | uncertain significance |
| rs886045350 | 1:155,260,088 | G/A | — | uncertain significance |
| rs932972 | 1:155,260,096 | G/A | — | benign |
| rs8177994 | 1:155,260,349 | G/A | — | conflicting classifications of pathogenicity |
| rs1052177 | 1:155,260,350 | A/C | — | uncertain significance |
| rs61755431 | 1:155,260,382 | C/T | — | uncertain significance |
| rs1052176 | 1:155,260,383 | G/A | — | conflicting classifications of pathogenicity |
| rs140859641 | 1:155,260,402 | G/A | — | likely benign |
| rs1456158956 | 1:155,260,412 | C/G | — | likely pathogenic |
| rs532230312 | 1:155,260,413 | G/C | — | likely pathogenic |
| rs1674489086 | 1:155,260,418 | C/G | — | conflicting classifications of pathogenicity |
| rs773628430 | 1:155,260,433 | A/G | — | uncertain significance |
| rs370316462 | 1:155,260,434 | C/T | — | uncertain significance |
| rs375525211 | 1:155,260,448 | C/G | — | uncertain significance |
| rs751050425 | 1:155,260,449 | G/A | — | uncertain significance |
| rs1169315216 | 1:155,260,465 | C/G | — | uncertain significance |
| rs777609966 | 1:155,260,472 | G/T | — | uncertain significance |
| rs374329329 | 1:155,260,475 | G/A | — | likely benign |
| rs377254462 | 1:155,261,532 | G/T | — | likely benign |
| rs983394596 | 1:155,261,545 | A/G | — | pathogenic |
| rs908690172 | 1:155,261,546 | C/T | — | likely pathogenic |
| rs201217064 | 1:155,261,551 | T/A | — | conflicting classifications of pathogenicity |
| rs1572051895 | 1:155,261,558 | C/A | — | uncertain significance |
| rs1674553211 | 1:155,261,562 | A/G | — | uncertain significance |
| rs758278200 | 1:155,261,570 | C/G | — | likely pathogenic |
| rs201255024 | 1:155,261,571 | G/A | — | pathogenic |
| rs1674554041 | 1:155,261,574 | G/T | — | likely pathogenic |
| rs2148198897 | 1:155,261,590 | C/T | — | uncertain significance |
| rs562318137 | 1:155,261,607 | G/T | — | uncertain significance |
| rs1674555327 | 1:155,261,610 | C/T | — | uncertain significance |
| rs771218326 | 1:155,261,612 | C/T | — | uncertain significance |
| rs139002629 | 1:155,261,613 | G/T | — | conflicting classifications of pathogenicity |
| rs113403872 | 1:155,261,636 | C/T | missense variant | pathogenic |
| rs1331742633 | 1:155,261,637 | G/A | — | pathogenic |
| rs376065116 | 1:155,261,647 | G/A | — | likely benign |
| rs8177988 | 1:155,261,649 | C/T | — | conflicting classifications of pathogenicity |
| rs185753709 | 1:155,261,654 | C/T | — | likely pathogenic |
| rs967010243 | 1:155,261,655 | G/A | — | conflicting classifications of pathogenicity |
| rs750255401 | 1:155,261,657 | G/A | — | uncertain significance |
| rs758327704 | 1:155,261,672 | C/T | — | conflicting classifications of pathogenicity |
| rs551883218 | 1:155,261,673 | G/A | — | likely pathogenic |
| rs141560532 | 1:155,261,681 | G/A | — | pathogenic |
| rs2525270500 | 1:155,261,682 | C/T | — | likely pathogenic |
| rs746257586 | 1:155,261,696 | C/T | — | uncertain significance |
| rs200133000 | 1:155,261,697 | G/A | — | uncertain significance |
| rs369183199 | 1:155,261,702 | C/T | — | conflicting classifications of pathogenicity |
| rs902988637 | 1:155,261,703 | G/A | — | pathogenic |
| rs768210809 | 1:155,261,708 | C/T | — | uncertain significance |
| rs116100695 | 1:155,261,709 | G/A | missense variant | pathogenic |
| rs773040738 | 1:155,261,723 | G/A | — | uncertain significance |
| rs3762272 | 1:155,261,777 | C/T | downstream gene variant | benign |
| rs2525277601 | 1:155,262,966 | A/G | — | likely pathogenic |
| rs118204085 | 1:155,262,968 | C/A | missense variant | uncertain significance |
| rs201406712 | 1:155,262,969 | G/A | — | conflicting classifications of pathogenicity |
| rs774262110 | 1:155,262,970 | G/A | — | uncertain significance |
| rs2525277846 | 1:155,262,993 | T/A | — | likely pathogenic |
| rs1647321523 | 1:155,263,016 | G/A | — | uncertain significance |
| rs149946271 | 1:155,263,025 | A/G | — | conflicting classifications of pathogenicity |
| rs752034960 | 1:155,263,026 | C/T | — | conflicting classifications of pathogenicity |
| rs755522396 | 1:155,263,031 | C/T | — | conflicting classifications of pathogenicity |
| rs146708702 | 1:155,263,039 | G/A | — | conflicting classifications of pathogenicity |
| rs189360283 | 1:155,263,059 | G/A | — | uncertain significance |
| rs1326895470 | 1:155,263,077 | G/A | — | uncertain significance |
| rs771145576 | 1:155,263,086 | C/A | — | pathogenic |
| rs142238268 | 1:155,263,101 | G/A | — | uncertain significance |
| rs2525279507 | 1:155,263,105 | G/T | — | pathogenic |
| rs762591322 | 1:155,263,113 | C/T | — | uncertain significance |
| rs768002493 | 1:155,263,127 | C/T | — | conflicting classifications of pathogenicity |
| rs1647338688 | 1:155,263,132 | A/C | — | uncertain significance |
| rs1647338952 | 1:155,263,137 | G/T | — | uncertain significance |
| rs767981368 | 1:155,263,139 | A/C | — | conflicting classifications of pathogenicity |
| rs777145975 | 1:155,263,141 | G/A | — | uncertain significance |
| rs1647339680 | 1:155,263,145 | C/T | — | uncertain significance |
| rs778487109 | 1:155,263,149 | A/C | — | uncertain significance |
| rs2148202138 | 1:155,263,156 | T/A | — | uncertain significance |
| rs8177982 | 1:155,263,186 | A/G | — | conflicting classifications of pathogenicity |
| rs774652817 | 1:155,263,229 | C/T | — | pathogenic |
| rs118204084 | 1:155,263,237 | G/T | missense variant | pathogenic |
| rs759855502 | 1:155,263,246 | C/T | — | uncertain significance |
| rs756549612 | 1:155,263,248 | G/A | — | uncertain significance |
| rs1647346476 | 1:155,263,257 | G/C | — | likely pathogenic |
| rs774006353 | 1:155,263,263 | T/G | — | uncertain significance |
| rs2525281138 | 1:155,263,264 | T/A | — | uncertain significance |
| rs866472917 | 1:155,263,279 | C/T | — | pathogenic |
| rs779817999 | 1:155,263,281 | C/T | — | uncertain significance |
Showing 100 of 269 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.