Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.E70K
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MFAP1

NM_005926.3:p.E70K

Associated Papers

RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants.

Bueno-Martínez E et al.

Cancers, 2021

34200360 (PubMed )
Supplement: cancers-13-02845-s001.zip › cancers-1205645-supplementary.pdf

Defining regulatory and phosphoinositide-binding sites in the human WIPI-1 β-propeller responsible for autophagosomal membrane localization downstream of mTORC1 inhibition.

Gaugel A et al.

Journal of Molecular Signaling, 2012

Variable effects of maturity-onset-diabetes-of-youth (MODY)-associated glucokinase mutations on substrate interactions and stability of the enzyme.

Liang Y et al.

The Biochemical Journal, 1995

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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."