Gene:
PKLR
pyruvate kinase, liver and RBC

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

? = Mouse-over for quick help

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

List of all variant annotations for PKLR

Variant?
(147)
Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No Clinical Annotations available VA
rs2297480 NC_000001.10:g.155279482T>G, NC_000001.11:g.155309691T>G, NG_045218.1:g.5944T>G, NM_001135821.1:c.-1-98T>G, NM_001135822.1:c.-1-373T>G, NM_001242824.1:c.-22-352T>G, NM_001242825.1:c.-175+726T>G, NM_002004.3:c.-1-98T>G, XM_005244962.1:c.-1-373T>G, XM_005244963.1:c.-22-352T>G, XM_005245266.1:c.-1000A>C, XM_005245266.3:c.-1000A>C, XM_011509639.1:c.-1000A>C, rs59477014
T > G
SNP
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

Overview

Alternate Names:  None
Alternate Symbols:  None
PharmGKB Accession Id: PA33352

Details

Cytogenetic Location: chr1 : q22 - q22
GP mRNA Boundary: chr1 : 155259084 - 155278531
GP Gene Boundary: chr1 : 155256084 - 155288531
Strand: minus

Visualization

UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.

View on UCSC Browser
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

  1. Abacavir Pathway, Pharmacokinetics/Pharmacodynamics
    Schematic representation of abacavir metabolism and mechanism of action. The potential mechanism of an abacavir hypersensitivity reaction is also shown.

External Pathways

Links to non-PharmGKB pathways.

PharmGKB contains no links to external pathways for this gene. To report a pathway, click here.

Curated Information ?

Evidence Gene
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
FDPS

Curated Information ?

Evidence Drug Class
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Bisphosphonates

Curated Information ?

Evidence Disease
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Osteoporosis, Postmenopausal

Publications related to PKLR: 1

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Modulatory effect of farnesyl pyrophosphate synthase (FDPS) rs2297480 polymorphism on the response to long-term amino-bisphosphonate treatment in postmenopausal osteoporosis. Current medical research and opinion. 2008. Marini Francesca, et al. PubMed

LinkOuts

NCBI Gene:
5313
OMIM:
102900
266200
609712
UCSC Genome Browser:
NM_000298
RefSeq RNA:
NM_000298
NM_181871
RefSeq Protein:
NP_000289
NP_870986
RefSeq DNA:
NG_011677
NT_004487
UniProtKB:
KPYR_HUMAN (P30613)
Ensembl:
ENSG00000143627
GenAtlas:
PKLR
GeneCard:
PKLR
MutDB:
PKLR
ALFRED:
LO250860V
HuGE:
PKLR
Comparative Toxicogenomics Database:
5313
ModBase:
P30613
HumanCyc Gene:
HS07088
HGNC:
9020

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