Details for Gene ARID1A

GENE NAME ARID1A
CHROMOSOME 1
ENSEMBL ID ENSG00000117713
ENTREZ ID 8289
UNIPROT ACCESSION NUMBER O14497
GO MOLECULAR FUNCTION nuclear receptor binding; protein binding; transcription coactivator activity; DNA binding
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-8878171; R-HSA-4839726; hsa05225; R-HSA-74160; hsa04714; R-HSA-3214858; R-HSA-212436; R-HSA-3247509; R-HSA-73857; R-HSA-8939243
3 combinations linked to ARID1A OLI733; OLI702; OLI721
2 variants linked to ARID1A ARID1A:c.5717G>A, p.Arg1906Gln; ARID1A:c.472C>T, p.Pro158Ser
1 disease linked to ARID1A Isolated anencephaly

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