Varaico: Literature-Extracted Genetic Variants

Gene:NF2
Variant:p.Q115K
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NF2

NM_000268.4:p.Q115K

Associated Papers

Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.

Van Marcke C et al.

Breast Cancer Research : Bcr, 2020

32295625 (PubMed )
Supplement: 13058_2020_1273_MOESM1_ESM.xlsx › Table_S2

Importance of Highly Conserved Peptide Sites of Human Cytomegalovirus gO for Formation of the gH/gL/gO Complex.

Stegmann C et al.

Journal of Virology, 2017

GPIHBP1 missense mutations often cause multimerization of GPIHBP1 and thereby prevent lipoprotein lipase binding.

Beigneux AP et al.

Circulation Research, 2015

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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."