Varaico: Literature-Extracted Genetic Variants

Gene:GLI2
Variant:p.R226H
Back to variants list

GLI2

NM_001374353.1:p.R226H

Associated Papers

Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism.

Corder ML et al.

American Journal of Medical Genetics. Part A, 2022

SAMHD1 in cancer: curse or cure?

Schott K et al.

Journal of Molecular Medicine (berlin, Germany), 2022

Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Bakouny Z et al.

Nature Communications, 2021

33547292 (PubMed )
Supplement: 41467_2021_21068_MOESM4_ESM.xlsx › oncop_maf

Role of GLI2 in hypopituitarism phenotype.

Arnhold IJ et al.

Journal of Molecular Endocrinology, 2015

Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.

Bear KA et al.

Journal of Medical Genetics, 2014

Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2.

Wannasilp N et al.

American Journal of Medical Genetics. Part A, 2011

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."