Varaico: Literature-Extracted Genetic Variants

Gene:CGREF1
Variant:p.E249K
Back to variants list

CGREF1

NM_006569.6:p.E249K

Associated Papers

Identification of CFAP52 as a novel diagnostic target of male infertility with defects of sperm head-tail connection and flagella development.

Jin HJ et al.

Elife, 2023

38126872 (PubMed )
Supplement: elife-92769-fig2-data1.zip › Figure_2-source_data_1 › Figure_2-source_data_1 › Figure_2-source_data_1.xlsx › Table

Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.

Zhou C et al.

Chinese Medical Journal, 2023

37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET

Spatial genomic diversity associated with APOBEC mutagenesis in squamous cell carcinoma arising from ovarian teratoma.

Tamura R et al.

Cancer Science, 2023

36762791 (PubMed )
Supplement: CAS-114-2145-s001.xlsx › Table_S6

Genomic and Transcriptomic Characterization of Relapsed SCLC Through Rapid Research Autopsy.

Chen HZ et al.

Jto Clinical and Research Reports, 2021

34590014 (PubMed )
Supplement: mmc4.xlsx › T1

Tumor heterogeneity and acquired drug resistance in FGFR2-fusion-positive cholangiocarcinoma through rapid research autopsy.

Krook MA et al.

Cold Spring Harbor Molecular Case Studies, 2019

31371345 (PubMed )
Supplement: supp_mcs.a004002_Supplemental_S1.xlsx › Aorta_esophagus_lymph_node

Identification of Targetable Lesions in Anaplastic Thyroid Cancer by Genome Profiling.

Ravi N et al.

Cancers, 2019

30909364 (PubMed )
Supplement: cancers-11-00402-s001.zip › cancers-454918-suppl-final › cancers-454918-Table-S3.xlsx › Sheet1

Somatic activating mutations in MAP2K1 cause melorheostosis.

Kang H et al.

Nature Communications, 2018

29643386 (PubMed )
Supplement: 41467_2018_3720_MOESM2_ESM.xlsx › WES-mutations.txt
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."