Varaico: Literature-Extracted Genetic Variants

Gene:CTDNEP1
Variant:p.D67N
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CTDNEP1

NM_001143775.2:p.D67N

Associated Papers

Structure and mechanism of the human CTDNEP1-NEP1R1 membrane protein phosphatase complex necessary to maintain ER membrane morphology.

Gao S et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

38776370 (PubMed )
Supplement: pnas.2321167121.sapp.pdf

Loss of phosphatase CTDNEP1 potentiates aggressive medulloblastoma by triggering MYC amplification and genomic instability.

Luo Z et al.

Nature Communications, 2023

Nuclear envelope phosphatase 1-regulatory subunit 1 (formerly TMEM188) is the metazoan Spo7p ortholog and functions in the lipin activation pathway.

Han S et al.

The Journal of Biological Chemistry, 2012

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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."