PharmGKB contains no dosing guidelines for this gene. To report known dosing guidelines, or if you are interested in developing guidelines, click here.
PharmGKB contains no drug labels with pharmacogenomic information for this gene. To report a drug label with PGx, click here.
PharmGKB contains no Clinical Variants that meet the highest level of criteria.
To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the table.
| Position ? | Drug ? | Relevance ? |
Strength of Evidence ? |
||
|---|---|---|---|---|---|
Download a summary of all Clinical Annotations available.
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.
PharmGKB contains no genetic tests for this gene. To report genetic tests, click here.
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.
Links in the "Drugs" column lead to PharmGKB Drug Pages.
|
Variant?
(build 132) |
Alternate Names ? | Drugs ? | Alleles ? | Function ? |
Amino Acid?
Translation |
|
|---|---|---|---|---|---|---|
| rs1801131 | A1298C, MTHFR:1298A>C, c.1286A>C, g.11777063T>G, g.16685A>C, g.7859208T>G, p.Glu429Ala | T > G | Missense | Glu429Ala | ||
| rs1801133 | 677C>T, A222V, Ala222Val, C677T, MTHFR: c.677C>T, MTHFR:667C>T, c.665C>T, g.11778965G>A, g.14783C>T, g.7861110G>A, p.A222V, p.Ala222Val | G > A | Missense | Ala222Val | ||
| rs4846051 | MTHFR:1317T>C, MTHFR:Phe435PHE, c.1305C>T, g.16704C>T, g.7859189G>A | C > T | Not Available | Phe435Phe |
Overview
| Alternate Names: | 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH) - ALTERNATIVELY SPLICED; MTHFR; 5,10-methylenetetrahydrofolate reductase (NADPH); METHYLENETETRAHYDROFOLATE REDUCTASE LONG ISOFORM, ALTERNATIVELY SPLICED; Methylenetetrahydrofolate reductase; OTTHUMP00000002367; OTTHUMP00000002368; OTTHUMP00000002373; methylenetetrahydrofolate reductase; methylenetetrahydrofolate reductase intermediate form |
|---|---|
| Alternate Symbols: | AY046562.1 |
| PharmGKB Accession Id: | PA245 |
Details
| Cytogenetic Location: | chr1 : p36.22 - p36.22 |
|---|---|
| GP mRNA Boundary†: | chr1 : 11845787 - 11866115 |
| GP Gene Boundary†: | chr1 : 11842787 - 11876115 |
| Strand: | minus |
| Product Name: | 5,10-methylenetetrahydrofolate reductase (NADPH), Methylenetetrahydrofolate reductase, methylenetetrahydrofolate reductase intermediate form |
PharmGKB Curated Pathways
Pathways created internally by PharmGKB based primarily on literature evidence.
-
Fluoropyrimidine Pathway, Pharmacodynamics
Model non-tissue-specific cancer cell displaying genes which may be involved in the pharmacodynamics of the fluoropyrimidines, 5-fluorouracil (5-FU), capecitabine and tegafur.
-
Folate Cycle (PD)
Model non-tissue specific cancer cell displaying candidate genes which may be involved in the pharmacodynamics of antimetabolite drugs acting on the folate cycle
-
Methotrexate Pathway
Methotrexate cellular disposition and effects
External Pathways
Links to non-PharmGKB pathways.
Datasets
- Folate, Homocysteine and Vitamin B12 in Young Healthy Individuals
- Homocysteine concentrations in leukemia patients
- MTHFR Functional Protein Variants, Comparative Genomics and Structural Implications
- Pharmacogenetic Risk Factors for Osteonecrosis of the Hip Among Children With Leukemia
- RNA expression in metabolite and transport genes
- MTHFR and Risk for Breast Cancer
- Pharmacogenetics of Minimal Residual Disease Response in Children with B-Precursor Acute Lymphoblastic Leukemia (ALL): A Report from the Children's Oncology Group
Downloads
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LinkOuts
- UniProtKB:
- MTHR_HUMAN (P42898)
- Q8IU67_HUMAN (Q8IU67)
- Ensembl:
- ENSG00000177000
- GenAtlas:
- MTHFR
- GeneCard:
- GC01M011845 (4524)
- SOURCE:
- MTHFR
- MutDB:
- MTHFR
Common Searches
Non-Curated Publications
A list of non-curated publications that mention this gene is available.