Details for Gene POLQ

GENE NAME POLQ
CHROMOSOME 3
ENSEMBL ID ENSG00000051341
ENTREZ ID 10721
UNIPROT ACCESSION NUMBER O75417
GO MOLECULAR FUNCTION transferase activity; ATP binding; nucleotide binding; damaged DNA binding; nucleotidyltransferase activity; DNA-directed DNA polymerase activity
ESSENTIAL IN MOUSE Non-essential
PATHWAYS R-HSA-5693532; R-HSA-73894; R-HSA-5685939; R-HSA-5693538
1 combination linked to POLQ OLI284
1 variant linked to POLQ POLQ:c.6743A>G, p.Asn2248Ser
1 disease linked to POLQ Familial adenomatous polyposis

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