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In silico study of missense variants of FANCA, FANCC and FANCG genes reveals high risk deleterious alleles predisposing to Fanconi anemia pathogenesis.

Gene - 20 Feb 2022

Shahid Muhammad, Azfaralariff Ahmad, Zubair Muhammad, Abdulkareem Najm Ahmed, Khalili Nahid, Law Douglas, Firasat Sabika, Fazry Shazrul

Abstract excerpt

Among the 22 Fanconi anemia (FA) reported genes, 90% of mutational spectra were found in three genes, namely FANCA (64%), FANCC (12%) and FANCG (8%). Therefore, this study aimed to identify the high-risk deleterious variants in three selected genes (FANCA, FANCC, and FANCG) through various computational approaches. The missense variant datasets retrieved from the UCSC genome browser were analyzed for their...

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PMID: 34864095
DOI: 10.1016/j.gene.2021.146104

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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