Varaico: Literature-Extracted Genetic Variants

Gene:EPCAM
Variant:p.K106*
Back to variants list

EPCAM

NM_002354.3:p.K106*

Associated Papers

Case Series of Eight Congenital Tufting Enteropathy Patients and Literature Review.

Fang Y et al.

Clinical Genetics, 2025

Clinical integration of germline findings from a tumor testing precision medicine program.

Sanabria-Salas MC et al.

Bmc Cancer, 2025

39885482 (PubMed )
Supplement: 12885_2025_13487_MOESM1_ESM.pdf

EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.

Pathak SJ et al.

Human Mutation, 2019

Novel Mutations in EPCAM Cause Congenital Tufting Enteropathy.

Tang W et al.

Journal of Clinical Gastroenterology, 2018

Absence of cell-surface EpCAM in congenital tufting enteropathy.

Schnell U et al.

Human Molecular Genetics, 2013

Tufting Enteropathy with EpCAM Mutations in Two Siblings.

Ko JS et al.

Gut and Liver, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."