Varaico: Literature-Extracted Genetic Variants

Gene:FANCL
Variant:p.W341G
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FANCL

NM_018062.4:p.W341G

Associated Papers

The PI3K/Akt1 pathway enhances steady-state levels of FANCL.

Dao KH et al.

Molecular Biology of the Cell, 2013

The structure of the catalytic subunit FANCL of the Fanconi anemia core complex.

Cole AR et al.

Nature Structural & Molecular Biology, 2010

Structural determinants of human FANCF protein that function in the assembly of a DNA damage signaling complex.

Kowal P et al.

The Journal of Biological Chemistry, 2007

UBE2T is the E2 in the Fanconi anemia pathway and undergoes negative autoregulation.

Machida YJ et al.

Molecular Cell, 2006

The WD40 repeats of FANCL are required for Fanconi anemia core complex assembly.

Gurtan AM et al.

The Journal of Biological Chemistry, 2006

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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."