Varaico: Literature-Extracted Genetic Variants

Gene:TUBB8
Variant:p.D417N
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TUBB8

NM_177987.3:p.D417N

Associated Papers

Genetic landscape of human oocyte/embryo defects.

Chen B et al.

Cell Genomics, 2026

41005306 (PubMed )
Supplement: mmc3.xlsx › Table_S2

Molecular Guardians of Oocyte Maturation: A Systematic Review on TUBB8, KIF11, and CKAP5 in IVF Outcomes.

Voros C et al.

International Journal of Molecular Sciences, 2025

Pathogenic variants of TUBB8 cause oocyte spindle defects by disrupting with EB1/CAKP5 interactions and potential treatment targeting microtubule acetylation through HDAC6 inhibition.

Luo H et al.

Clinical and Translational Medicine, 2025

TUBB8 mutations as a cause of oocyte maturation abnormalities: presentation of oocyte and embryo profiles and novel mutations.

Ebru H et al.

Reproductive Biomedicine Online, 2023

Gene mutations impede oocyte maturation, fertilization, and early embryonic development.

Fei CF et al.

Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2022

Target-Sequencing of Female Infertility Pathogenic Gene Panel and a Novel TUBB8 Loss-of-Function Mutation.

Yuan H et al.

Frontiers in Genetics, 2022

Meiosis interrupted: the genetics of female infertility via meiotic failure.

Biswas L et al.

Reproduction (cambridge, England), 2021

Mutation analysis of tubulin beta 8 class VIII in infertile females with oocyte or embryonic defects.

Yang P et al.

Clinical Genetics, 2021

Tubulin mutations in neurodevelopmental disorders as a tool to decipher microtubule function.

Fourel G et al.

Febs Letters, 2020

The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.

Sun J et al.

Genomics, Proteomics & Bioinformatics, 2020

32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6

Mutation analysis of the TUBB8 gene in primary infertile women with arrest in oocyte maturation.

Wang AC et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2018

Mutation analysis of the TUBB8 gene in nine infertile women with oocyte maturation arrest.

Huang L et al.

Reproductive Biomedicine Online, 2017

Mutations in TUBB8 and Human Oocyte Meiotic Arrest.

Feng R et al.

The New England Journal of Medicine, 2016

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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."