VARIANT: 7515v1
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Entry
7515v1 Variant
Name
XRCC1 mutation
Type
Loss of function
Gene
XRCC1
X-ray repair cross complementing 1 [KO:
K10803
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
194360
Network
nt06504
Base excision repair
Disease
H01891
Autosomal recessive spinocerebellar ataxias
Reference
PMID:
28002403
Authors
Hoch NC, Hanzlikova H, Rulten SL, Tetreault M, Komulainen E, Ju L, Hornyak P, Zeng Z, Gittens W, Rey SA, Staras K, Mancini GM, McKinnon PJ, Wang ZQ, Wagner JD, Yoon G, Caldecott KW
Title
XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia.
Journal
Nature 541:87-91 (2017)
DOI:
10.1038/nature20790
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integrated database retrieval system
