GENE NAME | XRCC1 |
CHROMOSOME | 19 |
ENSEMBL ID | ENSG00000073050 |
ENTREZ ID | 7515 |
UNIPROT ACCESSION NUMBER | P18887 |
GO MOLECULAR FUNCTION | damaged DNA binding; protein binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-5696398; R-HSA-73894; R-HSA-5693532; R-HSA-73884; R-HSA-5696397; R-HSA-73933; R-HSA-6781827; hsa03410; R-HSA-110381; R-HSA-5649702; R-HSA-5685939; R-HSA-5696399; R-HSA-6782210; R-HSA-5693538 |
2 combinations linked to XRCC1 | OLI750; OLI700 |
2 variants linked to XRCC1 | XRCC1:c.20G>T, p.Arg7Leu; XRCC1:c.1738C>T, p.Arg580Trp |
1 disease linked to XRCC1 | Isolated anencephaly |