Varaico: Literature-Extracted Genetic Variants

Gene:UBE2QL1
Variant:p.C88S
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UBE2QL1

NM_001145161.3:p.C88S

Associated Papers

The ubiquitin-conjugating enzyme UBE2QL1 coordinates lysophagy in response to endolysosomal damage.

Koerver L et al.

Embo Reports, 2019

UBE2QL1 is disrupted by a constitutional translocation associated with renal tumor predisposition and is a novel candidate renal tumor suppressor gene.

Wake NC et al.

Human Mutation, 2013

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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."