Variant: rs1060501879

present in Gene: FANCA present in Chromosome: 16 Position on Chromosome: 89791458 Alleles of this Variant: C/A;T

rs1060501879 in FANCA gene and Fanconi Anemia PMID 19367192 2009 Validation of Fanconi anemia complementation Group A assignment using molecular analysis.

PMID 11739169 2001 A cytoplasmic serine protein kinase binds and may regulate the Fanconi anemia protein FANCA.

PMID 10090479 1999 The FANCA gene in Japanese Fanconi anemia: reports of eight novel mutations and analysis of sequence variability.

PMID 12444097 2002 Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants.

PMID 15523645 2004 Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population.