Varaico: Literature-Extracted Genetic Variants

Gene:SMARCA4
Variant:p.L1161fs
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SMARCA4

NM_003072.5:p.L1161fs

Associated Papers

SMARCA4-Deficient Undifferentiated Thoracic Tumor: Clinical Features and Prognosis of a Case Series and Literature Review.

Shan F et al.

The Clinical Respiratory Journal, 2026

A neomorphic protein interface catalyzes covalent inhibition of RASG12D aspartic acid in tumors.

Weller C et al.

Science (new York, N.y.), 2025

40705880 (PubMed )
Supplement: science.ads0239_data_s1_to_s6.zip › science.ads0239_data_s4.xlsx › Sheet1

Synchronous primary cancers involving the endometrium and fallopian tube: A case report.

Cao Q et al.

Cytojournal, 2025

Histo-molecular characterization of pancreatic cancer with microsatellite instability: intra-tumor heterogeneity, B2M inactivation, and the importance of metastatic sites.

Luchini C et al.

Virchows Archiv : an International Journal of Pathology, 2022

Case report: A rapid response to immunotherapy in a thoracic SMARCA4-deficient undifferentiated tumor with respiratory failure.

Shi L et al.

Frontiers in Oncology, 2022

Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients.

Fernando TM et al.

Nature Communications, 2020

33144586 (PubMed )
Supplement: 41467_2020_19402_MOESM4_ESM.xlsx › Sheet1

Germline mutations of SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type and in SMARCA4-deficient undifferentiated uterine sarcoma: Clinical features of a single family and comparison of large cohorts.

Connor YD et al.

Gynecologic Oncology, 2020

An In-Depth Look at Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT): Clinical Implications from Recent Molecular Findings.

Lu B et al.

Journal of Cancer, 2019

Comprehensive genomic profiling reveals inactivating SMARCA4 mutations and low tumor mutational burden in small cell carcinoma of the ovary, hypercalcemic-type.

Lin DI et al.

Gynecologic Oncology, 2017

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.

Lim ET et al.

Nature Neuroscience, 2017

Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.

Ramos P et al.

Nature Genetics, 2014

Loss of the tumor suppressor SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT).

Ramos P et al.

Rare Diseases (austin, Tex.), 2014

Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.

Chang H et al.

Plos One, 2011

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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."