Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.C109S
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INS

NM_000207.3:p.C109S

Associated Papers

A Review of the Biosynthesis and Structural Implications of Insulin Gene Mutations Linked to Human Disease.

Ataie-Ashtiani S et al.

Cells, 2023

Functional selectivity of insulin receptor revealed by aptamer-trapped receptor structures.

Kim J et al.

Nature Communications, 2022

36310231 (PubMed )
Supplement: 41467_2022_34292_MOESM1_ESM.pdf

The clinical and genetic characteristics of permanent neonatal diabetes (PNDM) in the state of Qatar.

Al-Khawaga S et al.

Molecular Genetics & Genomic Medicine, 2019

Mutations in the immunoglobulin-like domain of gp190, the leukemia inhibitory factor (LIF) receptor, increase or decrease its affinity for LIF.

Bitard J et al.

The Journal of Biological Chemistry, 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."