SMARCA4 c.3760G>T ;(p.E1254*)

Variant ID: 19-11144179-G-T

NM_003072.3(SMARCA4):c.3760G>T;(p.E1254*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: SMARCA4: 3760G>T; E1254*
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page



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

Nature Communications
Fernando, Tharu M TM; Piskol, Robert R; Bainer, Russell R; Sokol, Ethan S ES; Trabucco, Sally E SE; Zhang, Qing Q; Trinh, Huong H; Maund, Sophia S; Kschonsak, Marc M; Chaudhuri, Subhra S; Modrusan, Zora Z; Januario, Thomas T; Yauch, Robert L RL
Publication Date: 2020-11-03

Variant appearance in text: SMARCA4: E1254*
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



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

Journal Of Cancer
Lu, Bingjian B; Shi, Haiyan H
Publication Date: 2019

Variant appearance in text: SMARCA4: 3760G>T
PubMed Link: 30662543
Variant Present in the following documents:
  • Main text
  • jcav10p0223.pdf
View BVdb publication page



SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.

The Journal Of Pathology
Errichiello, Edoardo E; Mustafa, Noor N; Vetro, Annalisa A; Notarangelo, Lucia Dora LD; de Jonge, Hugo H; Rinaldi, Berardo B; Vergani, Debora D; Giglio, Sabrina Rita SR; Morbini, Patrizia P; Zuffardi, Orsetta O
Publication Date: 2017-09

Variant appearance in text: SMARCA4: 3760G>T; Glu1254*
PubMed Link: 28608987
Variant Present in the following documents:
View BVdb publication page



Germline SMARCA4 mutations in patients with ovarian small cell carcinoma of hypercalcemic type.

Orphanet Journal Of Rare Diseases
Moes-Sosnowska, Joanna J; Szafron, Lukasz L; Nowakowska, Dorota D; Dansonka-Mieszkowska, Agnieszka A; Budzilowska, Agnieszka A; Konopka, Bozena B; Plisiecka-Halasa, Joanna J; Podgorska, Agnieszka A; Rzepecka, Iwona K IK; Kupryjanczyk, Jolanta J
Publication Date: 2015-03-15

Variant appearance in text: BRG1: Glu1254*
PubMed Link: 25886974
Variant Present in the following documents:
  • Main text
  • 13023_2015_Article_247.pdf
View BVdb publication page