AKR1C3 P180S - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

AKR1C3 P180S

(AKR1C3 Pro180Ser)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr10:5141609: 1.1% (122/10758) in EVS
  • T @ chr10:5131608: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 1.1% (122/10758)

Publications
 

Genomes
 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr10:5131609

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr10:5131609

 

Other external references
 

    dbSNP
  • rs34186955
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (11 hits -- see all)
  • Profiling Genetic Variation along the Androgen Biosynthesis ...
    Alert me when this article is cited. Alert me if a correction is ... HSD17B3 G289S, AKR1C3 Q5H, AKR1C3 P180S, CYP19A1 R264C, KLK3 D102N, KLK3 L132I, KLK3 ...
    cancerres.aacrjournals.org/cgi/content/full/66/2/743
  • Profiling Genetic Variation along the Androgen Biosynthesis ...
    G289S, AKR1C3 Q5H, AKR1C3 P180S, CYP19A1 R264C, KLK3 D102N, ... CYP11A, CYP17A1, CYP19A1, KLK3, and AKR1C3 was done using primer. sequences that were ...
    cancerres.aacrjournals.org/cgi/reprint/66/2/743.pdf
  • Polymorphisms in Genes Associated with Androgen Biosynthesis ...
    AKR1C3. 3-alpha hydroxysteroid dehydrogenase type II/17beta ... (SRD5A2, HSD3B1, HSD17B2, HSD17B3, AKR1C3, CYP19A1, CYP17A, KLK3, AR and LHB) acting in ...
    acta.uta.fi/haekokoversio.php?id=10786
  • Aldo-keto reductase family 1 member C3 - Homo sapiens (Human)
    AKR1C3. Synonyms: DDH1, HSD17B5, KIAA0119, PGFS. Organism. Homo sapiens ... and inhibitor design of type 5 17beta-hydroxysteroid dehydrogenase (AKR1C3) ...
    www.uniprot.org/uniprot/P42330
  • details)
    AKR1C3. Metabolic_Enzyme_1_Geneatlas_id. AKR1C3. Metabolic_Enzyme_1_hgnc_id. HGNC:386 ... rs1804062; rs35575889; rs34186955; rs35961894; rs12387; rs1937839; ...
    www.metagene.de/program/hmdb.prg?a=4809
  • AKR1C3 Gene - GeneCards | AK1C3 Protein | AK1C3 Antibody
    EntrezGene summary for AKR1C3: This gene encodes a member of the aldo/keto reductase ... AKR1C3 Gene in genomic location: bands according to Ensembl, ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=AKR1C3&snp=190
  • UniProt: P42330
    ... and inhibitor design of type 5 17beta- RT hydroxysteroid dehydrogenase (AKR1C3)."; RL Mol. ... prostaglandin D(2) 11-ketoreductase (AKR1C3) in RT complex with the nonsteroidal ...
    www.genome.jp/dbget-bin/www_bget?uniprot:P42330
  • omega data
    10 5131609 NON_SYNONYMOUS_CODING AKR1C3 ENSG00000196139 ENST00000380554 0.0000 p ... rs1804059 10 5137819 NON_SYNONYMOUS_CODING AKR1C3 ENSG00000196139 ...
    bioinfo.cipf.es/francisco/project/replicabilty/...

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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