Gene:
ACTG1
actin, gamma 1

PharmGKB contains no prescribing info for this . Contact us to report known genotype-based dosing guidelines, or if you are interested in developing guidelines.

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.

To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the table.

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 ACTG1

Variant?
(147)
Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
rs1135989 NC_000017.10:g.79478007G>A, NC_000017.11:g.81510981G>A, NG_011433.1:g.6821C>T, NM_001199954.1:c.930C>T, NM_001614.3:c.930C>T, NP_001186883.1:p.Ala310=, NP_001605.1:p.Ala310=, NR_037688.1:n.1069C>T, NW_003871087.1:g.165619G>A, rs17845587, rs17858492, rs3199032
G > -
G > A
SNP
A310A
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

Overview

Alternate Names:  ACTG; DFNA20; DFNA26
Alternate Symbols:  None
PharmGKB Accession Id: PA24468

Details

Cytogenetic Location: chr17 : q25.3 - q25.3
GP mRNA Boundary: chr17 : 79476997 - 79479892
GP Gene Boundary: chr17 : 79473997 - 79489892
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.
No related genes are available

Curated Information ?

Evidence Drug
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
vincristine

Curated Information ?

Publications related to ACTG1: 2

No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Polymorphisms of the vincristine pathway and response to treatment in children with childhood acute lymphoblastic leukemia. Pharmacogenomics. 2014. Ceppi Francesco, 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 mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. American journal of human genetics. 2006. Procaccio Vincent, et al. PubMed

LinkOuts

NCBI Gene:
71
OMIM:
102560
604717
UCSC Genome Browser:
NM_001614
RefSeq RNA:
NM_001199954
NM_001614
NR_037688
RefSeq Protein:
NP_001186883
NP_001605
RefSeq DNA:
NG_011433
NT_010783
UniProtKB:
ACTG_HUMAN (P63261)
Ensembl:
ENSG00000184009
GenAtlas:
ACTG1
GeneCard:
ACTG1
MutDB:
ACTG1
ALFRED:
LO173062T
HuGE:
ACTG1
Comparative Toxicogenomics Database:
71
ModBase:
P63261
HumanCyc Gene:
HS01183
HGNC:
144

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