Varaico: Literature-Extracted Genetic Variants

Gene:ACVR1C
Variant:p.K222R
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ACVR1C

NM_145259.3:p.K222R

Associated Papers

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5

High-throughput transcriptome analysis reveals a developmental increase in Acvr1c which mediates epigenetic repression of the gene encoding the pubertal brake, Makorin ring finger protein 3.

Shalev D et al.

Nar Molecular Medicine, 2025

Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.

Kashani E et al.

Neuro-oncology, 2023

Identification of Rare Loss-of-Function Genetic Variation Regulating Body Fat Distribution.

Koprulu M et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

Activin B can signal through both ALK4 and ALK7 in gonadotrope cells.

Bernard DJ et al.

Reproductive Biology and Endocrinology : Rb&e, 2006

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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."