Gene:
PIK3R1
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)

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.

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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 PIK3R1

Variant?
(147)
Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No Clinical Annotations available VA
rs3730089 NC_000005.10:g.68292320G>A, NC_000005.9:g.67588148G>A, NG_012849.2:g.81565G>A, NM_001242466.1:c.-480G>A, NM_181504.3:c.168G>A, NM_181523.1:c.978G>A, NM_181523.2:c.978G>A, NM_181524.1:c.78G>A, NP_852556.2:p.Met56Ile, NP_852664.1:p.Met326Ile, NP_852665.1:p.Met26Ile, XM_005248542.1:c.978G>A, XM_005248542.2:c.978G>A, XM_011543493.1:c.651G>A, XP_005248599.1:p.Met326Ile, XP_011541795.1:p.Met217Ile, rs17847316, rs386584794, rs52830014
G > A
SNP
M56I
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

Overview

Alternate Names:  None
Alternate Symbols:  GRB1; p85; p85-ALPHA
PharmGKB Accession Id: PA33312

Details

Cytogenetic Location: chr5 : q13.1 - q13.1
GP mRNA Boundary: chr5 : 67511584 - 67597649
GP Gene Boundary: chr5 : 67501584 - 67600649
Strand: plus

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. Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics
    Representation of anti-diabetic drugs repaglinide, nateglinide and sulfonylurea effects on insulin secretion in pancreatic cells.
  1. EGFR Inhibitor Pathway, Pharmacodynamics
    Model non-tissue specific cancer cell displaying genes that may be involved in the treatment using epidermal growth factor receptor specific tyrosine kinase inhibitors or monoclonal antibodies.
  1. Sorafenib Pharmacodynamics
    Mechanism of action of sorafenib

Curated Information ?

Curated Information ?

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

Curated Information ?

Publications related to PIK3R1: 7

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Targeting therapeutic liabilities engendered by PIK3R1 mutations for cancer treatment. Pharmacogenomics. 2016. Cheung Lydia Wt, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
High-throughput screening identified inherited genetic variations in the EGFR pathway contributing to skin toxicity of EGFR inhibitors. Pharmacogenomics. 2015. Hasheminasab Sayed-Mohammad, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Mutations and deregulation of Ras/Raf/MEK/ERK and PI3K/PTEN/Akt/mTOR cascades which alter therapy response. Oncotarget. 2012. McCubrey James A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A frequent kinase domain mutation that changes the interaction between PI3Kalpha and the membrane. Proceedings of the National Academy of Sciences of the United States of America. 2009. Mandelker Diana, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Structural comparisons of class I phosphoinositide 3-kinases. Nature reviews. Cancer. 2008. Amzel L Mario, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
An integrated genomic analysis of human glioblastoma multiforme. Science (New York, N.Y.). 2008. Parsons D Williams, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The genomic landscapes of human breast and colorectal cancers. Science (New York, N.Y.). 2007. Wood Laura D, et al. PubMed

LinkOuts

NCBI Gene:
5295
OMIM:
171833
UCSC Genome Browser:
NM_181504
RefSeq RNA:
NM_001242466
NM_181504
NM_181523
NM_181524
RefSeq Protein:
NP_001229395
NP_852556
NP_852664
NP_852665
RefSeq DNA:
NG_012849
NT_006713
UniProtKB:
P85A_HUMAN (P27986)
Ensembl:
ENSG00000145675
GenAtlas:
PIK3R1
GeneCard:
PIK3R1
MutDB:
PIK3R1
ALFRED:
LO016410M
HuGE:
PIK3R1
Comparative Toxicogenomics Database:
5295
ModBase:
P27986
HumanCyc Gene:
HS07270
HGNC:
8979

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