Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R12C
Variant:p.E81K
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PPP1R12C

NM_017607.4:p.E81K

Associated Papers

Cellular Mechanisms Underlying B Cell Abnormalities in Patients With Gain-of-Function Mutations in the PIK3CD Gene.

Wang W et al.

Frontiers in Immunology, 2022

Novel PIK3CD mutations affecting N-terminal residues of p110δ cause activated PI3Kδ syndrome (APDS) in humans.

Takeda AJ et al.

The Journal of Allergy and Clinical Immunology, 2017

Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

Mirzaa GM et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2013

PIK3CA mutations and amplification in endometrioid endometrial carcinomas: relation to other genetic defects and clinicopathologic status of the tumors.

Konopka B et al.

Human Pathology, 2011

PIK3R1 (p85α) is somatically mutated at high frequency in primary endometrial cancer.

Urick ME et al.

Cancer Research, 2011

A unique spectrum of somatic PIK3CA (p110alpha) mutations within primary endometrial carcinomas.

Rudd ML et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2011

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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."