Varaico: Literature-Extracted Genetic Variants

Gene:CALCOCO2
Variant:p.V248A
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CALCOCO2

NM_005831.5:p.V248A

Associated Papers

Identification of autophagy receptors for the Crohn's disease-associated adherent-invasive Escherichia coli.

Da Silva A et al.

Frontiers in Cellular and Infection Microbiology, 2024

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM11_ESM.xlsx › SD7_-_Drug_Targets

Advances in IBD genetics.

Van Limbergen J et al.

Nature Reviews. Gastroenterology & Hepatology, 2014

Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies.

Ellinghaus D et al.

Gastroenterology, 2013

Autophagy receptor CALCOCO2/NDP52 takes center stage in Crohn disease.

Till A et al.

Autophagy, 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."