RAD51C, RAD51 paralog C, 5889

N. diseases: 162; N. variants: 96
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606997
rs267606997
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		A 0.800 GeneticVariation CLINVAR Mammalian RAD51 paralogs protect nascent DNA at stalled forks and mediate replication restart. 26354865 2015
dbSNP: rs267606997
rs267606997
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.800 GeneticVariation UNIPROT Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair. 24141787 2014
dbSNP: rs267606997
rs267606997
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		A 0.800 GeneticVariation CLINVAR Distinct roles of FANCO/RAD51C protein in DNA damage signaling and repair: implications for Fanconi anemia and breast cancer susceptibility. 22167183 2012
dbSNP: rs267606997
rs267606997
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		A 0.800 GeneticVariation CLINVAR Mutation of the RAD51C gene in a Fanconi anemia-like disorder. 20400963 2010
dbSNP: rs267606997
rs267606997
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.800 GeneticVariation UNIPROT Mutation of the RAD51C gene in a Fanconi anemia-like disorder. 20400963 2010
dbSNP: rs267606997
rs267606997
Entrez Id: 5889
Gene Symbol: RAD51C
RAD51C
CUI: C3150653
Disease:
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		A 0.800 CausalMutation CLINVAR