Varaico: Literature-Extracted Genetic Variants

Gene:TLE6
Variant:p.E541K
Back to variants list

TLE6

NM_001143986.2:p.E541K

Associated Papers

Genetic landscape of human oocyte/embryo defects.

Chen B et al.

Cell Genomics, 2026

41005306 (PubMed )
Supplement: mmc3.xlsx › Table_S2

Novel mutations in transducin-like enhancer of split 6 cause infertility in women with embryonic arrest.

Tan J et al.

Journal of Assisted Reproduction and Genetics, 2025

Cryo-EM structure of the human subcortical maternal complex and the associated discovery of infertility-associated variants.

Chi P et al.

Nature Structural & Molecular Biology, 2024

Structural basis of the subcortical maternal complex and its implications in reproductive disorders.

Chi P et al.

Nature Structural & Molecular Biology, 2024

38177687 (PubMed )
Supplement: 41594_2023_1153_MOESM3_ESM.xlsx › Table_S1

Exonic genetic variants associated with unexpected fertilization failure and zygotic arrest after ICSI: a systematic review.

Torra-Massana M et al.

Zygote (cambridge, England), 2023

Genetic variants underlying developmental arrests in human preimplantation embryos.

Ozturk S

Molecular Human Reproduction, 2023

A novel variant in TLE6 is associated with embryonic developmental arrest (EDA) in familial female infertility.

Akbari M et al.

Scientific Reports, 2022

Gene mutations associated with fertilization failure after in vitro fertilization/intracytoplasmic sperm injection.

Xue Y et al.

Frontiers in Endocrinology, 2022

Two novel mutations in PADI6 and TLE6 genes cause female infertility due to arrest in embryonic development.

Liu J et al.

Journal of Assisted Reproduction and Genetics, 2021

Identification of Novel Biallelic TLE6 Variants in Female Infertility With Preimplantation Embryonic Lethality.

Zhang M et al.

Frontiers in Genetics, 2021

Expanding the genetic and phenotypic spectrum of female infertility caused by TLE6 mutations.

Lin J et al.

Journal of Assisted Reproduction and Genetics, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."