Variant: rs121917785 

    present in Gene: FANCC;LOC107987102;AOPEP
    present in Chromosome: 9
    Position on Chromosome: 95107112
    Alleles of this Variant: A/C

rs121917785 in FANCC;LOC107987102;AOPEP gene and FANCONI ANEMIA, COMPLEMENTATION GROUP C PMID 15299030 2004 The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR).

PMID 8128956 1994 Mutation analysis of the Fanconi anemia gene FACC.

PMID 1574115 1992 Cloning of cDNAs for Fanconi's anaemia by functional complementation.

PMID 19888064 2009 ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

PMID 18197057 2008 Carrier screening in individuals of Ashkenazi Jewish descent.

PMID 9242535 1997 The Fanconi anemia polypeptide, FAC, binds to the cyclin-dependent kinase, cdc2.

PMID 8499901 1993 A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein.

PMID 11520787 2001 The Fanconi anemia complementation group C gene product: structural evidence of multifunctionality.

PMID 8844212 1996 Novel mutations and polymorphisms in the Fanconi anemia group C gene.