Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.D513Y
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PTCH1

NM_000264.5:p.D513Y

Associated Papers

The energetics and ion coupling of cholesterol transport through Patched1.

Ansell TB et al.

Science Advances, 2023

The Energetics and Ion Coupling of Cholesterol Transport Through Patched1.

Ansell TB et al.

Biorxiv : the Preprint Server for Biology, 2023

Deep sequencing of gastric carcinoma reveals somatic mutations relevant to personalized medicine.

Holbrook JD et al.

Journal of Translational Medicine, 2011

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_

Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome.

Tanioka M et al.

Archives of Dermatological Research, 2005

Functional analysis in Drosophila indicates that the NBCCS/PTCH1 mutation G509V results in activation of smoothened through a dominant-negative mechanism.

Hime GR et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2004

Several human PATCHED1 mutations block protein maturation.

Bailey EC et al.

Cancer Research, 2003

A new germline mutation of the PTCH gene in a Japanese patient with nevoid basal cell carcinoma syndrome associated with meningioma.

Tate G et al.

Japanese Journal of Clinical Oncology, 2003

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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."