Details for Gene HNF1A

GENE NAME HNF1A
CHROMOSOME 12
ENSEMBL ID None
ENTREZ ID ENSG00000135100
UNIPROT ACCESSION NUMBER A0A0A0MQU7
GO MOLECULAR FUNCTION ['DNA binding', 'RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'transcription cis-regulatory region binding', 'protein binding', 'DNA-binding transcription activator activity, RNA polymerase II-specific', 'protein dimerization activity', 'DNA-binding transcription factor activity', 'DNA-binding transcription factor activity, RNA polymerase II-specific']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04950; hsa04950; R-HSA-1266738; R-HSA-186712; R-HSA-210745
4 combinations linked to HNF1A OLI962; OLI1027; OLI1721; OLI203
4 variants linked to HNF1A HNF1A:c.872dup, p.Gly292ArgfsTer25; HNF1A:c.872C>G, p.Pro291Arg; HNF1A:c.685C>T, p.Arg229Ter; HNF1A:c.872C>G, p.Pro291Arg
1 disease linked to HNF1A MODY

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