Varaico: Literature-Extracted Genetic Variants

Gene:TRPV6
Variant:p.I223T
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TRPV6

NM_018646.6:p.I223T

Associated Papers

TRPV6, a new entrant as a susceptibility gene in chronic pancreatitis: evidence from a systematic review and meta-analysis.

Shah IA et al.

Bmc Gastroenterology, 2026

TRPV6-related pancreatitis: natural history and the impact of the pancreas-specific deletion on pancreatitis in mice.

Masamune A et al.

Journal of Gastroenterology, 2025

The odyssey of the TR(i)P journey to the cellular membrane.

Rivera B et al.

Frontiers in Cell and Developmental Biology, 2024

The Coexistence of TRPV6 Variants With Other Pancreatitis-Associated Genes Affects Pediatric-Onset Pancreatitis.

Hirai S et al.

Journal of Pediatric Gastroenterology and Nutrition, 2023

In silico analysis of TRPM4 variants of unknown clinical significance.

Tarnovskaya SI et al.

Plos One, 2023

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

Calcium selective channel TRPV6: Structure, function, and implications in health and disease.

Khattar V et al.

Gene, 2022

Sequence and Structure-Based Analyses of Human Ankyrin Repeats.

Chakrabarty B et al.

Molecules (basel, Switzerland), 2022

35056738 (PubMed )
Supplement: molecules-27-00423-s001.zip › SupplementaryFileS4.xlsx › Sheet1

TRPV6 variants confer susceptibility to chronic pancreatitis in the Chinese population.

Zou WB et al.

Human Mutation, 2020

Novel TRPV6 mutations in the spectrum of transient neonatal hyperparathyroidism.

Suzuki Y et al.

The Journal of Physiological Sciences : Jps, 2020

Variants That Affect Function of Calcium Channel TRPV6 Are Associated With Early-Onset Chronic Pancreatitis.

Masamune A et al.

Gastroenterology, 2020

TRPV6 Gene Mutation in a Dizygous Twin With Transient Neonatal Hyperparathyroidism.

Yamashita S et al.

Journal of the Endocrine Society, 2019

TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism.

Suzuki Y et al.

American Journal of Human Genetics, 2018

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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."