Varaico: Literature-Extracted Genetic Variants

Gene:GLI1
Variant:p.R380Q
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GLI1

NM_005269.3:p.R380Q

Associated Papers

Expanding the Phenotypic and Genotypic Spectrum of Postaxial Polydactyly: A Study of Four Consanguineous Pakistani Families.

Saeed T et al.

Genetic Testing and Molecular Biomarkers, 2025

GLI1 confers resistance to PARP inhibitors by activating the DNA damage repair pathway.

Ikeuchi H et al.

Oncogene, 2024

Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas.

Pu X et al.

Cell & Bioscience, 2023

37964396 (PubMed )
Supplement: 13578_2023_1156_MOESM13_ESM.xls › Sheet1

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5

A review of polydactyly and its inheritance: Connecting the dots.

Bubshait DK

Medicine, 2022

Ivosidenib, an IDH1 inhibitor, in a patient with recurrent, IDH1-mutant glioblastoma: a case report from a Phase I study.

Tejera D et al.

Cns Oncology, 2020

Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.

Palencia-Campos A et al.

Human Mutation, 2020

Recurrent Neoantigens in Colorectal Cancer as Potential Immunotherapy Targets.

Chen C et al.

Biomed Research International, 2020

32733937 (PubMed )
Supplement: 2861240.f1.zip › Table_S3.xlsx › Table_S3

Analysis of error profiles in deep next-generation sequencing data.

Ma X et al.

Genome Biology, 2019

30867008 (PubMed )
Supplement: 13059_2019_1659_MOESM1_ESM.xlsx › S3_b
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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."