Varaico: Literature-Extracted Genetic Variants

Gene:HSF2BP
Variant:p.G224*
Back to variants list

HSF2BP

NM_007031.2:p.G224*

Associated Papers

Variant in the synaptonemal complex protein SYCE2 associates with pregnancy loss through effect on recombination.

Steinthorsdottir V et al.

Nature Structural & Molecular Biology, 2024

38287193 (PubMed )
Supplement: 41594_2023_1209_MOESM1_ESM.pdf

A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1.

Felipe-Medina N et al.

Elife, 2020

Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Subramanian DN et al.

Nature Communications, 2020

32242007 (PubMed )
Supplement: 41467_2020_15461_MOESM4_ESM.xlsx › Data_1

Characterizing mutagenic effects of recombination through a sequence-level genetic map.

Halldorsson BV et al.

Science (new York, N.y.), 2019

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."