Overview

Variant ID 14813
Entrez Gene ID 8644
Gene AKR1C3 (GeneCards)
Location hg19 10:5089985-5089985
hg38 10:5047793-5047793
Disease Cockayne syndrome (view all the variants in this disease)
Method HiSeq X Ten
Mutation(HGVS format) NC_000010.10:g.5089985 C>T (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 135534747

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.2398
CADD Raw score (version 1.3) 0.231331 (Deleterious)
FATHMM raw prediction score 0.12048 (Tolerated)
Deleterious probability by DeFine 0.2658 (Neutral)
Entrez Gene ID 8644 (NCBI Gene)
Official Gene Symbol AKR1C3 (GeneCards)
Number of variants in AKR1C3 in this database 3 (view all the variants)
Full name aldo-keto reductase family 1 member C3
Band 10p15.1
Other IDs Vega: OTTHUMG00000017585
OMIM: 603966
HGNC: HGNC:386
Ensembl: ENSG00000196139
Other names DD3, DDX, PGFS, HAKRB, HAKRe, HA1753, HSD17B5, hlPGFS
Summary This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ), and the oxidation of 9alpha,11beta-PGF2 to PGD2. It may play an important role in the pathogenesis of allergic diseases such as asthma, and may also have a role in controlling cell growth and/or differentiation. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

Individual #1

Individual ID 29217584.20 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Male Patient  
Phenotype 3  
Disease Cockayne syndrome (view all the variants in this disease)
OMIM ID 216400

Publication #1: 29217584

Pubmed ID 29217584
Title Aging and neurodegeneration are associated with increased mutations in single human neurons.
Journal Science
Publication date 2018.02
Disease Cockayne syndrome Xeroderma Pigmentosum
Number of cases Male cases: 3; Female cases: 6; cases of unknown sex: 15;