Varaico: Literature-Extracted Genetic Variants

Gene:CELA3B
Variant:p.A241G
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CELA3B

NM_007352.4:p.A241G

Associated Papers

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc8.xlsx › Supplementary_Table_7C

Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.

Pape K et al.

Cancers, 2022

36291768 (PubMed )
Supplement: cancers-14-04984-s001.zip › Table_S2.xlsx › DD204

Loss-of-function variant in chymotrypsin like elastase 3B (CELA3B) is associated with non-alcoholic chronic pancreatitis.

Tóth A et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2022

The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis.

Masson E et al.

Human Mutation, 2021

Elastase 3B mutation links to familial pancreatitis with diabetes and pancreatic adenocarcinoma.

Moore PC et al.

The Journal of Clinical Investigation, 2019

Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.

Miller EM et al.

Oncotarget, 2017

29254223 (PubMed )
Supplement: oncotarget-08-102033-s003.xlsx › macrogen_wes.n65_t65.varscan.sn

Detection of human elastase isoforms by the ScheBo Pancreatic Elastase 1 Test.

Tóth AZ et al.

American Journal of Physiology. Gastrointestinal and Liver Physiology, 2017

Genetic Analysis of Human Chymotrypsin-Like Elastases 3A and 3B (CELA3A and CELA3B) to Assess the Role of Complex Formation between Proelastases and Procarboxypeptidases in Chronic Pancreatitis.

Párniczky A et al.

International Journal of Molecular Sciences, 2016

Complex Formation of Human Proelastases with Procarboxypeptidases A1 and A2.

Szabó A et al.

The Journal of Biological Chemistry, 2016

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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."