Varaico: Literature-Extracted Genetic Variants

Gene:E2F1
Variant:p.A102T
Back to variants list

E2F1

NM_005225.3:p.A102T

Associated Papers

Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.

Adamson AW et al.

Journal of Ovarian Research, 2023

37460928 (PubMed )
Supplement: 13048_2023_1234_MOESM2_ESM.xlsx › Table_S10__

Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort.

Quarantani G et al.

Plos One, 2023

37540677 (PubMed )
Supplement: pone.0288336.s005.xlsx › Supplementary_Table_IV

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL5__PON_in_red_

Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.

Jiao SY et al.

Human Reproduction Update, 2021

Insights Into the Somatic Mutation Burden of Hepatoblastomas From Brazilian Patients.

Aguiar TFM et al.

Frontiers in Oncology, 2020

32432034 (PubMed )
Supplement: Table_6.XLSX › HB33

Multi-Omics Characterization of the Spontaneous Mesenchymal-Epithelial Transition in the PMC42 Breast Cancer Cell Lines.

Bhatia S et al.

Journal of Clinical Medicine, 2019

31430931 (PubMed )
Supplement: jcm-08-01253-s001.zip › Supplementary_Info › Suppl_Tables.xlsx › S5.ET_SNP_deleterious

A novel, somatic, transforming mutation in the extracellular domain of Epidermal Growth Factor Receptor identified in myeloproliferative neoplasm.

Casolari DA et al.

Scientific Reports, 2017

28550306 (PubMed )
Supplement: 41598_2017_2655_MOESM2_ESM.xls › Combined__Use_

Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism.

Wang Y et al.

Bmc Urology, 2016

Genomic and genetic variation in E2F transcription factor-1 in men with nonobstructive azoospermia.

Jorgez CJ et al.

Fertility and Sterility, 2015

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1871.656
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."