Varaico: Literature-Extracted Genetic Variants

Gene:CPA1
Variant:p.Y318*
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CPA1

NM_001868.4:p.Y318*

Associated Papers

Most unambiguous loss-of-function CPA1 mutations are unlikely to predispose to chronic pancreatitis.

Lin JH et al.

Gut, 2020

Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.

Dufva O et al.

Nature Communications, 2018

29674644 (PubMed )
Supplement: 41467_2018_3987_MOESM6_ESM.xlsx › NKTCL_L10

Genetics of pancreatitis: the 2014 update.

Masamune A

The Tohoku Journal of Experimental Medicine, 2014

Variants in CPA1 are strongly associated with early onset chronic pancreatitis.

Witt H et al.

Nature Genetics, 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."