Varaico: Literature-Extracted Genetic Variants

Gene:FANCA
Variant:p.H492R
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FANCA

NM_000135.4:p.H492R

Associated Papers

Integrating evidence from protein domains to identify cancer driver mutations.

Ostroverkhova D et al.

Protein Science : a Publication of the Protein Society, 2026

41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1

Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.

Castella M et al.

Blood, 2011

Evidence for subcomplexes in the Fanconi anemia pathway.

Medhurst AL et al.

Blood, 2006

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

Adachi D et al.

Human Molecular Genetics, 2002

Cloning and characterization of murine fanconi anemia group A gene: Fanca protein is expressed in lymphoid tissues, testis, and ovary.

van de Vrugt HJ et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2000

Sequence variation in the Fanconi anemia gene FAA.

Levran O et al.

Proceedings of the National Academy of Sciences of the United States of America, 1997

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."