PDX1

pancreatic and duodenal homeobox 1

Summary

The protein encoded by this gene is a transcriptional activator of several genes, including insulin, somatostatin, glucokinase, islet amyloid polypeptide, and glucose transporter type 2. The encoded nuclear protein is involved in the early development of the pancreas and plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene are a cause of pancreatic agenesis, which can lead to early-onset insulin-dependent diabetes mellitus (IDDM), as well as maturity onset diabetes of the young type 4 (MODY4). [provided by RefSeq, Aug 2017]

Known Variants138 total

rsidPosition (GRCh37)AllelesClassClinVar
rs6194400413:28,492,405G/Aregulatory region variant—
rs733147813:28,493,857T/G—benign
rs958194313:28,493,997G/Aregulatory region variantbenign
rs18848287413:28,494,190G/T—likely benign
rs55717489713:28,494,251C/T—likely benign
rs19392235113:28,494,258C/T—conflicting classifications of pathogenicity
rs14693659813:28,494,281C/T—likely benign
rs138056436613:28,494,283G/C—uncertain significance
rs93647466713:28,494,303G/A—uncertain significance
rs133331378213:28,494,322A/T—uncertain significance
rs13785278513:28,494,327T/Cmissense variantrisk factor
rs124250001713:28,494,332G/C—likely benign
rs135853224713:28,494,337A/T—uncertain significance
rs95439723113:28,494,352C/T—uncertain significance
rs145776280213:28,494,357T/G—uncertain risk allele
rs144907208813:28,494,367G/A—uncertain significance
rs19290209813:28,494,372C/Gmissense variantpathogenic
rs76736357513:28,494,373C/A—uncertain significance
rs92540901313:28,494,374T/C—likely benign
rs75021917213:28,494,376C/T—uncertain significance
rs128782971113:28,494,377G/A—uncertain significance
rs93686167713:28,494,382T/G—uncertain significance
rs124219030413:28,494,385A/T—uncertain significance
rs142399262313:28,494,387A/T—uncertain significance
rs195777255113:28,494,392C/T—likely benign
rs118869406013:28,494,399C/T—uncertain risk allele
rs100202615013:28,494,409C/G—uncertain significance
rs139676567413:28,494,415C/T—uncertain significance
rs2850944113:28,494,437G/A—likely benign
rs75324996513:28,494,439G/A—conflicting classifications of pathogenicity
rs53056744313:28,494,440C/A—likely benign
rs195777363713:28,494,450C/A—uncertain significance
rs13785278413:28,494,451A/Tmissense variantrisk factor
rs77926916613:28,494,459C/T—uncertain significance
rs129854149313:28,494,465G/T—uncertain significance
rs134232009813:28,494,466A/G—uncertain significance
rs250019983613:28,494,481A/G—uncertain significance
rs123474977713:28,494,483G/A—uncertain significance
rs74872563713:28,494,485G/T—likely benign
rs56412944713:28,494,486C/A—conflicting classifications of pathogenicity
rs19392235313:28,494,491C/T—likely benign
rs144038907313:28,494,492C/G—uncertain significance
rs13785278313:28,494,501G/Amissense variantpathogenic
rs136231634213:28,494,504C/T—likely benign
rs75223636113:28,494,506C/T—likely benign
rs136229335813:28,494,509G/T—likely benign
rs95799515913:28,494,514C/T—uncertain significance
rs74591101513:28,494,533C/T—likely benign
rs76997428913:28,494,534C/G—uncertain significance
rs117955481413:28,494,549C/T—uncertain significance
rs141863044413:28,494,554C/T—uncertain significance
rs213750266313:28,494,557C/G—uncertain significance
rs37500910713:28,494,559C/A—uncertain significance
rs79704588513:28,494,560G/A—conflicting classifications of pathogenicity
rs104648214813:28,494,563C/G—likely benign
rs76487033213:28,494,571C/A—uncertain significance
rs75226009413:28,494,575C/T—likely benign
rs53572248713:28,494,587C/T—likely benign
rs19392235413:28,494,593G/T—likely benign
rs20170131313:28,494,596C/A—likely benign
rs14927590213:28,494,611C/G—likely benign
rs57375255713:28,494,624C/A—uncertain significance
rs250020052513:28,494,638G/T—uncertain significance
rs76258432113:28,494,653A/C—uncertain significance
rs75755841613:28,494,670G/A—uncertain risk allele
rs951291813:28,494,949C/G—benign
rs7316968713:28,498,102G/A—benign
rs6035377513:28,498,265C/G—benign
rs980563213:28,498,323G/C—benign
rs7503464413:28,498,325G/T—benign
rs77890183113:28,498,374C/A—likely benign
rs14351712213:28,498,404G/A—conflicting classifications of pathogenicity
rs77165616913:28,498,414C/G—uncertain significance
rs14800199513:28,498,415G/C—likely benign
rs19392235513:28,498,428C/Asynonymous variantlikely benign
rs250020612513:28,498,434C/T—uncertain significance
rs135556207313:28,498,441C/T—uncertain significance
rs77364385013:28,498,449C/A—uncertain significance
rs195780885813:28,498,460G/T—uncertain significance
rs116906886113:28,498,471A/C—uncertain significance
rs250020621713:28,498,474A/G—likely pathogenic
rs75421030213:28,498,475G/A—uncertain significance
rs8035666113:28,498,478G/Tmissense variantpathogenic
rs195780901113:28,498,481C/T—likely benign
rs78011785813:28,498,484A/G—likely benign
rs155524185713:28,498,488A/C—likely pathogenic
rs75278423413:28,498,508G/A—likely benign
rs250020632913:28,498,513G/A—uncertain significance
rs75844847513:28,498,514G/T—likely benign
rs8035666213:28,498,518G/Amissense variantpathogenic
rs38790677713:28,498,519A/Gmissense variantpathogenic
rs195780943113:28,498,520G/T—uncertain significance
rs7549893513:28,498,529C/T—conflicting classifications of pathogenicity
rs76838037413:28,498,544C/G—likely benign
rs159317041813:28,498,553C/A—uncertain significance
rs250020645813:28,498,555T/C—uncertain significance
rs19392235613:28,498,557A/Cmissense variantpathogenic
rs77154337713:28,498,573A/C—uncertain significance
rs13785278613:28,498,576G/Amissense variantrisk factor
rs77376878413:28,498,578C/A—uncertain significance

Showing 100 of 138 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.