Varaico: Literature-Extracted Genetic Variants

Gene:ADAM17
Variant:p.C600Y
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ADAM17

NM_003183.6:p.C600Y

Associated Papers

Functionally confirmed compound heterozygous ADAM17 missense loss-of-function variants cause neonatal inflammatory skin and bowel disease 1.

Imoto I et al.

Scientific Reports, 2021

Inhibitory role of TACE/ADAM17 cytotail in protein ectodomain shedding.

Li X et al.

World Journal of Biological Chemistry, 2011

The transmembrane domain of TACE regulates protein ectodomain shedding.

Li X et al.

Cell Research, 2007

Loss of ectodomain shedding due to mutations in the metalloprotease and cysteine-rich/disintegrin domains of the tumor necrosis factor-alpha converting enzyme (TACE).

Li X et al.

The Journal of Biological Chemistry, 2004

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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."