Varaico: Literature-Extracted Genetic Variants

Gene:NECTIN1
Variant:p.R212H
Back to variants list

NECTIN1

NM_002855.5:p.R212H

Associated Papers

Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.

Pinheiro M et al.

Cancers, 2020

32443704 (PubMed )
Supplement: cancers-12-01289-s001.zip › cancers-768495_-Supplementary_Tables_.xlsx › Table_S2

Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

Marini NJ et al.

American Journal of Medical Genetics. Part A, 2019

31063268 (PubMed )
Supplement: AJMG-179-1260-s007.xlsx › Table_S4

Identification of Novel Variants in the PVRL1 Gene in Patients With Nonsyndromic Cleft Lip With or Without Cleft Palate.

Oner DA et al.

Genetic Testing and Molecular Biomarkers, 2016

Mutation analysis of PVRL1 in patients with non-syndromic cleft of the lip and/or palate in Guangdong.

Shu SY et al.

Genetics and Molecular Research : Gmr, 2015

Novel insertion mutation in the PVRL1 gene in Turkish patients with non-syndromic cleft lip with/without cleft palate.

Aşlar D et al.

Archives of Oral Biology, 2014

Evaluating rare coding variants as contributing causes to non-syndromic cleft lip and palate.

Leslie EJ et al.

Clinical Genetics, 2013

PVRL1 as a candidate gene for nonsyndromic cleft lip with or without cleft palate: no evidence for the involvement of common or rare variants in southern Han Chinese patients.

Cheng HQ et al.

Dna and Cell Biology, 2012

Study of the poliovirus receptor related-1 gene in Thai patients with non-syndromic cleft lip with or without cleft palate.

Tongkobpetch S et al.

International Journal of Oral and Maxillofacial Surgery, 2008

Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate.

Scapoli L et al.

Annals of Human Genetics, 2006

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."