Varaico: Literature-Extracted Genetic Variants

Gene:NLRP14
Variant:p.D86V
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NLRP14

NM_176822.4:p.D86V

Associated Papers

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL5

Germ-Cell-Specific Inflammasome Component NLRP14 Negatively Regulates Cytosolic Nucleic Acid Sensing to Promote Fertilization.

Abe T et al.

Immunity, 2017

Analysis of protein-coding genetic variation in 60,706 humans.

Lek M et al.

Nature, 2016

27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table20.xlsx › SI_Table_20

Intrinsic flexibility of NLRP pyrin domains is a key factor in their conformational dynamics, fold stability, and dimerization.

Huber RG et al.

Protein Science : a Publication of the Protein Society, 2015

Structures of the NLRP14 pyrin domain reveal a conformational switch mechanism regulating its molecular interactions.

Eibl C et al.

Acta Crystallographica. Section D, Biological Crystallography, 2014

Mutations in the testis-specific NALP14 gene in men suffering from spermatogenic failure.

Westerveld GH et al.

Human Reproduction (oxford, England), 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."