Varaico: Literature-Extracted Genetic Variants

Gene:GCG
Variant:p.S63N
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GCG

NM_002054.5:p.S63N

Associated Papers

Overlapping upstream ORFs ending at c.125 lead to reduced Endoglin, contributing to Hereditary Hemorrhagic Telangiectasia.

Proust C et al.

Communications Biology, 2025

40681766 (PubMed )
Supplement: 42003_2025_8461_MOESM4_ESM.xlsx › Supp._Data__2_Output_MORFEE

Diabetes mellitus HNF4A-MODY in children from the Russian population: clinical and genetic features.

Sechko EA et al.

Frontiers in Endocrinology, 2025

Bedaquiline- and clofazimine- selected Mycobacterium tuberculosis mutants: further insights on resistance driven largely by Rv0678.

Snobre J et al.

Scientific Reports, 2023

Arginine 186 in the extracellular N-terminal region of the human parathyroid hormone 1 receptor is essential for contact with position 13 of the hormone.

Adams AE et al.

Molecular Endocrinology (baltimore, Md.), 1998

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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."