Varaico: Literature-Extracted Genetic Variants

Gene:GATA3
Variant:p.L348R
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GATA3

NM_001002295.2:p.L348R

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

Comprehensive genomic profiling and therapeutic implications for Taiwanese patients with treatment-naïve breast cancer.

Chen SH et al.

Cancer Medicine, 2024

38895905 (PubMed )
Supplement: CAM4-13-e7384-s003.xlsx › Sheet1

Genetic landscape and personalized tracking of tumor mutations in Vietnamese women with breast cancer.

Nguyen Hoang VA et al.

Molecular Oncology, 2023

36495126 (PubMed )
Supplement: MOL2-17-598-s002.xlsx › SupTable_S5_Variants_in_FFPE

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

Mutational signatures in GATA3 transcription factor and its DNA binding domain that stimulate breast cancer and HDR syndrome.

El-Assaad A et al.

Scientific Reports, 2021

Somatic mutations in benign breast disease tissue and risk of subsequent invasive breast cancer.

Rohan TE et al.

British Journal of Cancer, 2018

29872146 (PubMed )
Supplement: 41416_2018_89_MOESM2_ESM.xls › Table_2a

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

Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome.

Nakamura A et al.

Endocrine Journal, 2011

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.

Ali A et al.

Human Molecular Genetics, 2007

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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."