Varaico: Literature-Extracted Genetic Variants

Gene:PSMC3IP
Variant:p.E201del1
Back to variants list

PSMC3IP

NM_016556.4:p.E201del1

Associated Papers

Advances in monogenic female infertility.

Gu H et al.

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

MND1 and PSMC3IP control PARP inhibitor sensitivity in mitotic cells.

Zelceski A et al.

Cell Reports, 2023

Genetic control of meiosis surveillance mechanisms in mammals.

Huang Y et al.

Frontiers in Cell and Developmental Biology, 2023

36910159 (PubMed )
Supplement: DataSheet2.PDF

The landscape of genetic variations in non-syndromic primary ovarian insufficiency in the MENA region: a systematic review.

Allouch A et al.

Frontiers in Endocrinology, 2023

Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiency.

Sirchia F et al.

Journal of Assisted Reproduction and Genetics, 2022

Two novel biallelic mutations in PSMC3IP in a patient affected by premature ovarian insufficiency.

Mei L et al.

Molecular Medicine Reports, 2022

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

Biswas L et al.

Reproduction (cambridge, England), 2021

Primary ovarian insufficiency, meiosis and DNA repair.

Veitia RA

Biomedical Journal, 2020

GT198 (PSMC3IP) germline variants in early-onset breast cancer patients from hereditary breast and ovarian cancer families.

Schubert S et al.

Genes & Cancer, 2017

Significance of ligand interactions involving Hop2-Mnd1 and the RAD51 and DMC1 recombinases in homologous DNA repair and XX ovarian dysgenesis.

Zhao W et al.

Nucleic Acids Research, 2015

No mutations in the PSMC3IP gene identified in a Swedish cohort of women with primary ovarian insufficiency.

Norling A et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2014

Gene mutations associated with anomalies of human gonad formation.

Bashamboo A et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2013

XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription.

Zangen D et al.

American Journal of Human Genetics, 2011

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."