Varaico: Literature-Extracted Genetic Variants

Gene:CHEK1
Variant:p.R442Q
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CHEK1

NM_001114122.3:p.R442Q

Associated Papers

Advances in monogenic female infertility.

Gu H et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

RAD51 and Infertility: A Review and Case-Control Study.

Sahota JS et al.

Biochemical Genetics, 2024

Case report: A germline CHEK1 c.613 + 2T>C leads to a splicing error in a family with multiple cancer patients.

Qian J et al.

Frontiers in Oncology, 2024

When more is less: heritable gain-of-function chk1 mutations impair human fertility.

Gillespie DA

The Febs Journal, 2023

Maternal heterozygous mutation in CHEK1 leads to mitotic arrest in human zygotes.

Chen B et al.

Protein & Cell, 2022

Dominant mutations in CHK1 cause pronuclear fusion failure and zygote arrest that can be rescued by CHK1 inhibitor.

Zhang H et al.

Cell Research, 2021

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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."