SMARCA4 c.3256G>A ;(p.D1086N)

Variant ID: 19-11138500-G-A

NM_003072.3(SMARCA4):c.3256G>A;(p.D1086N)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A comparison of DNA sequencing and gene expression profiling to assist tissue of origin diagnosis in cancer of unknown primary.

The Journal Of Pathology
Posner, Atara A; Prall, Owen Wj OW; Sivakumaran, Tharani T; Etemadamoghadam, Dariush D; Thio, Niko N; Pattison, Andrew A; Balachander, Shiva S; Fisher, Krista K; Webb, Samantha S; Wood, Colin C; DeFazio, Anna A; Wilcken, Nicholas N; Gao, Bo B; Karapetis, Christos S CS; Singh, Madhu M; Collins, Ian M IM; Richardson, Gary G; Steer, Christopher C; Warren, Mark M; Karanth, Narayan N; Wright, Gavin G; Williams, Scott S; George, Joshy J; Hicks, Rodney J RJ; Boussioutas, Alex A; Gill, Anthony J AJ; Solomon, Benjamin J BJ; Xu, Huiling H; Fellowes, Andrew A; Fox, Stephen B SB; Schofield, Penelope P; Bowtell, David D; Mileshkin, Linda L; Tothill, Richard W RW
Publication Date: 2022-10-26

Variant appearance in text: SMARCA4: Asp1086Asn
PubMed Link: 36287571
Variant Present in the following documents:
  • PATH-259-81-s011.xlsx, sheet 2
View BVdb publication page



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: 3256G>A; D1086N
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
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: D1086N
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page