KEGG   VARIANT: 5892v1
Entry
5892v1                      Variant                                
Name
RAD51D mutation
Type
Loss of function
Gene
RAD51D  RAD51 paralog D [KO:K10871]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602954
Network
nt06506  Double-strand break repair
nt06508  Interstrand crosslink repair
Disease
H02531  Familial breast-ovarian cancer
Reference
  Authors
Loveday C, Turnbull C, Ramsay E, Hughes D, Ruark E, Frankum JR, Bowden G, Kalmyrzaev B, Warren-Perry M, Snape K, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L, Eccles D, Evans DG, Renwick A, Seal S, Lord CJ, Ashworth A, Reis-Filho JS, Antoniou AC, Rahman N
  Title
Germline mutations in RAD51D confer susceptibility to ovarian cancer.
  Journal
Nat Genet 43:879-882 (2011)
DOI:10.1038/ng.893
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