Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.R299Q
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GATA3

NM_001002295.2:p.R299Q

Associated Papers

Concurrent genomic assessment of circulating tumour cells and ctDNA to guide therapy in metastatic breast cancer.

Allsopp RC et al.

Bmc Cancer, 2025

41351070 (PubMed )
Supplement: 12885_2025_15187_MOESM1_ESM.zip › Supp_Table_1.xlsx › Sheet1

A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family.

Hasegawa Y et al.

Endocrine Journal, 2024

Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.

Sather CL et al.

Cancer Medicine, 2023

37587851 (PubMed )
Supplement: CAM4-12-17632-s002.xlsx › S5.LowCoverageVariantsExpPanel

A GATA3 gene mutation that causes incorrect splicing and HDR syndrome: a case study and literature review.

Tao Y et al.

Frontiers in Genetics, 2023

37693317 (PubMed )
Supplement: Table1.xlsx › Sheet1

GATA3 and MDM2 are synthetic lethal in estrogen receptor-positive breast cancers.

Bianco G et al.

Communications Biology, 2022

35440675 (PubMed )
Supplement: 42003_2022_3296_MOESM1_ESM.pdf

Classification of gastric cancer by EBV status combined with molecular profiling predicts patient prognosis.

He CY et al.

Clinical and Translational Medicine, 2020

32508039 (PubMed )
Supplement: CTM2-10-353-s003.xlsx › Table_S3

Targeted sequencing reveals the mutational landscape responsible for sorafenib therapy in advanced hepatocellular carcinoma.

Tang J et al.

Theranostics, 2020

32373219 (PubMed )
Supplement: thnov10p5384s2.xlsx › S5-All_HCC_Mutations

Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature.

Joseph ADD et al.

Bmc Endocrine Disorders, 2019

NOTCH1 pathway activating mutations and clonal evolution in pediatric T-cell acute lymphoblastic leukemia.

Kimura S et al.

Cancer Science, 2019

30387229 (PubMed )
Supplement: CAS-110-784-s012.xlsx › Sup3_Mutation

Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome.

Belge H et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2017

A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome.

Okawa T et al.

Bmc Endocrine Disorders, 2015

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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."