KEGG   VARIANT: 9319v1
Entry
9319v1                      Variant                                
Name
TRIP13 mutation
Type
Loss of function
Gene
TRIP13  thyroid hormone receptor interactor 13 [KO:K22399]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604507
Network
nt06515  Regulation of kinetochore-microtubule interactions
Disease
H01288  Mosaic variegated aneuploidy syndrome
Reference
  Authors
Yost S, de Wolf B, Hanks S, Zachariou A, Marcozzi C, Clarke M, de Voer R, Etemad B, Uijttewaal E, Ramsay E, Wylie H, Elliott A, Picton S, Smith A, Smithson S, Seal S, Ruark E, Houge G, Pines J, Kops GJPL, Rahman N
  Title
Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation.
  Journal
Nat Genet 49:1148-1151 (2017)
DOI:10.1038/ng.3883
Reference
  Authors
Zhang Z, Li B, Fu J, Li R, Diao F, Li C, Chen B, Du J, Zhou Z, Mu J, Yan Z, Wu L, Liu S, Wang W, Zhao L, Dong J, He L, Liang X, Kuang Y, Sun X, Sang Q, Wang L
  Title
Bi-allelic Missense Pathogenic Variants in TRIP13 Cause Female Infertility Characterized by Oocyte Maturation Arrest.
  Journal
Am J Hum Genet 107:15-23 (2020)
DOI:10.1016/j.ajhg.2020.05.001
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