Varaico: Literature-Extracted Genetic Variants

Gene:GLI3
Variant:p.R1537C
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GLI3

NM_000168.6:p.R1537C

Associated Papers

C-Terminal End of Gli3 Is Critical for Functional Protein Synthesis and Gli3-Dependent Anatomical Development.

Trinh NTM et al.

Development, Growth & Differentiation, 2025

GLI3 in Archaic Humans: Possible Contributions to Human Skeletal and Brain Evolution.

Nomura T et al.

Development, Growth & Differentiation, 2025

Innovative Family-Based Genetically Informed Series of Analyses of Whole-Exome Data Supports Likely Inheritance for Grammar in Children with Specific Language Impairment.

Andres EM et al.

Children (basel, Switzerland), 2023

A Neanderthal/Denisovan GLI3 variant contributes to anatomical variations in mice.

Agata A et al.

Frontiers in Cell and Developmental Biology, 2023

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › Oncogenes

Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway.

Renard E et al.

Human Genetics, 2019

Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Shankar GM et al.

Acta Neuropathologica Communications, 2014

25589003 (PubMed )
Supplement: 40478_2014_167_MOESM1_ESM.xlsx › Supplementary_Table_6

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 › TypeIII

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

Kalff-Suske M et al.

Human Molecular Genetics, 1999

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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."