Varaico: Literature-Extracted Genetic Variants

Gene:SMARCB1
Variant:p.R40Q
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SMARCB1

NM_003073.5:p.R40Q

Associated Papers

LINE-1 retrotransposition is a recurrent cause of MET exon 14 skipping in cancer.

Karlow JA et al.

Biorxiv : the Preprint Server for Biology, 2026

41757089 (PubMed )
Supplement: media-1.xlsx › Table_S1

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

A Carboxy-terminal Smarcb1 Point Mutation Induces Hydrocephalus Formation and Affects AP-1 and Neuronal Signalling Pathways in Mice.

Brugmans AK et al.

Cellular and Molecular Neurobiology, 2023

37219662 (PubMed )
Supplement: 10571_2023_1361_MOESM2_ESM.xlsx › COSMIC_Cancer_all_mutations

Case Report: A rare synchronous multiple gastric carcinoma achieved progression-free disease through NGS-guided serial treatment.

Shao X et al.

Frontiers in Oncology, 2023

37496667 (PubMed )
Supplement: Table_1.xlsx › Sheet1

Landscape of somatic mutations in breast cancer: new opportunities for targeted therapies in Saudi Arabian patients.

Barakeh DH et al.

Oncotarget, 2021

33868589 (PubMed )
Supplement: oncotarget-12-686-s002.xlsx › Sheet1

Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Koyama T et al.

Bmc Cancer, 2019

30709382 (PubMed )
Supplement: 12885_2019_5313_MOESM2_ESM.xlsx › supplementary_2_filtered

Retrospective review using targeted deep sequencing reveals mutational differences between gastroesophageal junction and gastric carcinomas.

Li-Chang HH et al.

Bmc Cancer, 2015

25656989 (PubMed )
Supplement: 12885_2015_1021_MOESM6_ESM.xlsx › Sheet1
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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."