Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.R784H
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CDH1

NM_004360.5:p.R784H

Associated Papers

Actomyosin contractility and a threshold of cadherin cell adhesion are required during tissue fusion.

Teng CS et al.

The Journal of Cell Biology, 2026

41231213 (PubMed )
Supplement: jcb_202503070_tables2.xlsx › Sheet1

Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial Cleft.

Zhu S et al.

Human Mutation, 2025

40918684 (PubMed )
Supplement: 6824122.f4.xlsx › Table_S4

TP53 mutations identify high-risk events for peripheral T-cell lymphoma treated with CHOP-based chemotherapy.

Johnson WT et al.

Blood Advances, 2023

37078708 (PubMed )
Supplement: BLOODA_ADV-2023-009953-mmc1.xlsx › S1B_PTCL-NOS_mutations_

Neural crest E-cadherin loss drives cleft lip/palate by epigenetic modulation via pro-inflammatory gene-environment interaction.

Alvizi L et al.

Nature Communications, 2023

CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer.

Selvanathan A et al.

Genes, 2020

32260281 (PubMed )
Supplement: genes-11-00391-s001.zip › genes-715863-supplementary.xlsx › Final_Variant_List

Clinical spectrum and pleiotropic nature of CDH1 germline mutations.

Figueiredo J et al.

Journal of Medical Genetics, 2019

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

Kievit A et al.

European Journal of Human Genetics : Ejhg, 2018

Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate.

Brito LA et al.

Human Mutation, 2015

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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."