Varaico: Literature-Extracted Genetic Variants

Gene:FANCI
Variant:p.D1301A
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FANCI

NM_001113378.2:p.D1301A

Associated Papers

Patient-derived C-terminal mutation of FANCI causes protein mislocalization and reveals putative EDGE motif function in DNA repair.

Colnaghi L et al.

Blood, 2011

FANCI protein binds to DNA and interacts with FANCD2 to recognize branched structures.

Yuan F et al.

The Journal of Biological Chemistry, 2009

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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."