SMARCA4 c.3728G>A ;(p.R1243Q)

Variant ID: 19-11144147-G-A

NM_003072.3(SMARCA4):c.3728G>A;(p.R1243Q)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


The SMARCA4R1157W mutation facilitates chromatin remodeling and confers PRMT1/SMARCA4 inhibitors sensitivity in colorectal cancer.

Npj Precision Oncology
Zeng, Xiangwei X; Yao, Bing B; Liu, Jianpeng J; Gong, Guan-Wen GW; Liu, Ming M; Li, Jiahuang J; Pan, Hua-Feng HF; Li, Qixiang Q; Yang, Dongjun D; Lu, Peifen P; Wu, Dongliang D; Xu, Peipei P; Chen, Bing B; Chen, Panhai P; Zhang, Ming M; Zen, Ke K; Jing, Jian J; Huang, David C S DCS; Chen, Dijun D; Jiang, Zhi-Wei ZW; Zhao, Quan Q
Publication Date: 2023-03-15

Variant appearance in text: SMARCA4: R1243Q
PubMed Link: 36922568
Variant Present in the following documents:
  • Main text
  • 41698_2023_Article_367.pdf
  • 41698_2023_367_MOESM1_ESM.pdf
View BVdb publication page



Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: SMARCA4: R1243Q; rs1064795161
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15

Variant appearance in text: SMARCA4: 3728G>A; Arg1243Gln
PubMed Link: 36350923
Variant Present in the following documents:
  • pnas.2203491119.sd01.xlsx, sheet 1
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: SMARCA4: 3728G>A; R1243Q
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

Genome Medicine
Hamanaka, Kohei K; Miyake, Noriko N; Mizuguchi, Takeshi T; Miyatake, Satoko S; Uchiyama, Yuri Y; Tsuchida, Naomi N; Sekiguchi, Futoshi F; Mitsuhashi, Satomi S; Tsurusaki, Yoshinori Y; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Yamada, Kohei K; Sakamoto, Masamune M; Fukuda, Hiromi H; Ohori, Sachiko S; Saida, Ken K; Itai, Toshiyuki T; Azuma, Yoshiteru Y; Koshimizu, Eriko E; Fujita, Atsushi A; Erturk, Biray B; Hiraki, Yoko Y; Ch'ng, Gaik-Siew GS; Kato, Mitsuhiro M; Okamoto, Nobuhiko N; Takata, Atsushi A; Matsumoto, Naomichi N
Publication Date: 2022-04-26

Variant appearance in text: SMARCA4: 3728G>A; Arg1243Gln
PubMed Link: 35468861
Variant Present in the following documents:
  • 13073_2022_1042_MOESM2_ESM.xls, sheet 8
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: 3728G>A; Arg1243Gln
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
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: R1243Q
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer.

Nature Communications
von Loga, Katharina K; Woolston, Andrew A; Punta, Marco M; Barber, Louise J LJ; Griffiths, Beatrice B; Semiannikova, Maria M; Spain, Georgia G; Challoner, Benjamin B; Fenwick, Kerry K; Simon, Ronald R; Marx, Andreas A; Sauter, Guido G; Lise, Stefano S; Matthews, Nik N; Gerlinger, Marco M
Publication Date: 2020-01-16

Variant appearance in text: SMARCA4: R1243Q
PubMed Link: 31949146
Variant Present in the following documents:
  • 41467_2019_Article_13915.pdf
  • 41467_2019_13915_MOESM4_ESM.xlsx, sheet 3
  • 41467_2019_13915_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.

Pediatric Research
Ziats, Mark N MN; Ahmad, Ayesha A; Bernat, John A JA; Fisher, Rachel R; Glassford, Megan M; Hannibal, Mark C MC; Jacher, Joseph E JE; Weiser, Natasha N; Keegan, Catherine E CE; Lee, Kristen N KN; Marzulla, Tessa B TB; O'Connor, Bridget C BC; Quinonez, Shane C SC; Seemann, Lauren L; Turner, Lauren L; Bielas, Stephanie S; Harris, Nicholas L NL; Ogle, Jacob D JD; Innis, Jeffrey W JW; Martin, Donna M DM
Publication Date: 2020-03

Variant appearance in text: SMARCA4: 3728G>A; R1243Q
PubMed Link: 31618753
Variant Present in the following documents:
  • NIHMS1541080-supplement-Supp_Tables_1-2.xlsx, sheet 1
View BVdb publication page