SMARCA4 c.4399G>A ;(p.D1467N)

Variant ID: 19-11152211-G-A

NM_003072.3(SMARCA4):c.4399G>A;(p.D1467N)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


JAK3 mutations and mitochondrial apoptosis resistance in T-cell acute lymphoblastic leukemia.

Leukemia
Bodaar, Kimberly K; Yamagata, Natsuko N; Barthe, Anais A; Landrigan, Jack J; Chonghaile, Triona Ni TN; Burns, Melissa M; Stevenson, Kristen E KE; Devidas, Meenakshi M; Loh, Mignon L ML; Hunger, Stephen P SP; Wood, Brent B; Silverman, Lewis B LB; Teachey, David T DT; Meijerink, Jules P JP; Letai, Anthony A; Gutierrez, Alejandro A
Publication Date: 2022-06

Variant appearance in text: SMARCA4: 4399G>A; D1467N
PubMed Link: 35411095
Variant Present in the following documents:
  • NIHMS1792675-supplement-Supplementary_Table_2.xlsx, sheet 1
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: 4399G>A; Asp1467Asn
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
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: D1467N
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications
Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U
Publication Date: 2020-07-20

Variant appearance in text: SMARCA4: D1467N
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia.

Plos One
Pouliot, Gayle P GP; Degar, James J; Hinze, Laura L; Kochupurakkal, Bose B; Vo, Chau D CD; Burns, Melissa A MA; Moreau, Lisa L; Ganesa, Chirag C; Roderick, Justine J; Peirs, Sofie S; Menten, Bjorn B; Loh, Mignon L ML; Hunger, Stephen P SP; Silverman, Lewis B LB; Harris, Marian H MH; Stevenson, Kristen E KE; Weinstock, David M DM; Weng, Andrew P AP; Van Vlierberghe, Pieter P; D'Andrea, Alan D AD; Gutierrez, Alejandro A
Publication Date: 2019

Variant appearance in text: SMARCA4: D1467N
PubMed Link: 31721781
Variant Present in the following documents:
  • pone.0221288.s010.xlsx, sheet 1
View BVdb publication page



PRC2 loss induces chemoresistance by repressing apoptosis in T cell acute lymphoblastic leukemia.

The Journal Of Experimental Medicine
Ariës, Ingrid M IM; Bodaar, Kimberly K; Karim, Salmaan A SA; Chonghaile, Triona Ni TN; Hinze, Laura L; Burns, Melissa A MA; Pfirrmann, Maren M; Degar, James J; Landrigan, Jack T JT; Balbach, Sebastian S; Peirs, Sofie S; Menten, Björn B; Isenhart, Randi R; Stevenson, Kristen E KE; Neuberg, Donna S DS; Devidas, Meenakshi M; Loh, Mignon L ML; Hunger, Stephen P SP; Teachey, David T DT; Rabin, Karen R KR; Winter, Stuart S SS; Dunsmore, Kimberly P KP; Wood, Brent L BL; Silverman, Lewis B LB; Sallan, Stephen E SE; Van Vlierberghe, Pieter P; Orkin, Stuart H SH; Knoechel, Birgit B; Letai, Anthony G AG; Gutierrez, Alejandro A
Publication Date: 2018-12-03

Variant appearance in text: SMARCA4: 4399G>A; D1467N
PubMed Link: 30404791
Variant Present in the following documents:
  • JEM_20180570_TableS4.xlsx, sheet 1
View BVdb publication page