ZFPM2 c.1632G>T ;(p.M544I)

Variant ID: 8-106813942-G-T

NM_012082.3(ZFPM2):c.1632G>T;(p.M544I)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: ZFPM2: M544I
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: ZFPM2: M544I
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



Genetic insights into non-syndromic Tetralogy of Fallot.

Frontiers In Physiology
Althali, Nouf J NJ; Hentges, Kathryn E KE
Publication Date: 2022

Variant appearance in text: ZFPM2: M544I
PubMed Link: 36277185
Variant Present in the following documents:
  • Main text
  • fphys-13-1012665.pdf
View BVdb publication page



Whole-genome sequencing identifies new candidate genes for nonobstructive azoospermia.

Andrology
Malcher, Agnieszka A; Stokowy, Tomasz T; Berman, Andrea A; Olszewska, Marta M; Jedrzejczak, Piotr P; Sielski, Dawid D; Nowakowski, Adam A; Rozwadowska, Natalia N; Yatsenko, Alexander N AN; Kurpisz, Maciej K MK
Publication Date: 2022-11

Variant appearance in text: ZFPM2: M544I
PubMed Link: 36017582
Variant Present in the following documents:
  • Main text
  • ANDR-10-1605.pdf
View BVdb publication page



Insights Into the Roles of GATA Factors in Mammalian Testis Development and the Control of Fetal Testis Gene Expression.

Frontiers In Endocrinology
Viger, Robert S RS; de Mattos, Karine K; Tremblay, Jacques J JJ
Publication Date: 2022

Variant appearance in text: FOG2: M544I
PubMed Link: 35692407
Variant Present in the following documents:
  • Main text
  • fendo-13-902198.pdf
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: ZFPM2: M544I; rs187043152
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications
Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ
Publication Date: 2018-09-04

Variant appearance in text: ZFPM2: M544I
PubMed Link: 30181556
Variant Present in the following documents:
  • 41467_2018_5914_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: ZFPM2: M544I; rs187043152
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 8
View BVdb publication page



Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

Genome Biology
Eggers, Stefanie S; Sadedin, Simon S; van den Bergen, Jocelyn A JA; Robevska, Gorjana G; Ohnesorg, Thomas T; Hewitt, Jacqueline J; Lambeth, Luke L; Bouty, Aurore A; Knarston, Ingrid M IM; Tan, Tiong Yang TY; Cameron, Fergus F; Werther, George G; Hutson, John J; O'Connell, Michele M; Grover, Sonia R SR; Heloury, Yves Y; Zacharin, Margaret M; Bergman, Philip P; Kimber, Chris C; Brown, Justin J; Webb, Nathalie N; Hunter, Matthew F MF; Srinivasan, Shubha S; Titmuss, Angela A; Verge, Charles F CF; Mowat, David D; Smith, Grahame G; Smith, Janine J; Ewans, Lisa L; Shalhoub, Carolyn C; Crock, Patricia P; Cowell, Chris C; Leong, Gary M GM; Ono, Makato M; Lafferty, Antony R AR; Huynh, Tony T; Visser, Uma U; Choong, Catherine S CS; McKenzie, Fiona F; Pachter, Nicholas N; Thompson, Elizabeth M EM; Couper, Jennifer J; Baxendale, Anne A; Gecz, Jozef J; Wheeler, Benjamin J BJ; Jefferies, Craig C; MacKenzie, Karen K; Hofman, Paul P; Carter, Philippa P; King, Richard I RI; Krausz, Csilla C; van Ravenswaaij-Arts, Conny M A CM; Looijenga, Leendert L; Drop, Sten S; Riedl, Stefan S; Cools, Martine M; Dawson, Angelika A; Juniarto, Achmad Zulfa AZ; Khadilkar, Vaman V; Khadilkar, Anuradha A; Bhatia, Vijayalakshmi V; Dũng, Vũ Chí VC; Atta, Irum I; Raza, Jamal J; Thi Diem Chi, Nguyen N; Hao, Tran Kiem TK; Harley, Vincent V; Koopman, Peter P; Warne, Garry G; Faradz, Sultana S; Oshlack, Alicia A; Ayers, Katie L KL; Sinclair, Andrew H AH
Publication Date: 2016-11-29

Variant appearance in text: ZFPM2: M544I
PubMed Link: 27899157
Variant Present in the following documents:
  • 13059_2016_1105_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Loss of Gata4 in Sertoli cells impairs the spermatogonial stem cell niche and causes germ cell exhaustion by attenuating chemokine signaling.

Oncotarget
Chen, Su-Ren SR; Tang, Ji-Xin JX; Cheng, Jin-Mei JM; Li, Jian J; Jin, Cheng C; Li, Xiao-Yu XY; Deng, Shou-Long SL; Zhang, Yan Y; Wang, Xiu-Xia XX; Liu, Yi-Xun YX
Publication Date: 2015-11-10

Variant appearance in text: FOG2: M544I
PubMed Link: 26473289
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
D'Alessandro, Lisa C A LC; Al Turki, Saeed S; Manickaraj, Ashok Kumar AK; Manase, Dorin D; Mulder, Barbara J M BJ; Bergin, Lynn L; Rosenberg, Herschel C HC; Mondal, Tapas T; Gordon, Elaine E; Lougheed, Jane J; Smythe, John J; Devriendt, Koen K; Bhattacharya, Shoumo S; Watkins, Hugh H; Bentham, Jamie J; Bowdin, Sarah S; Hurles, Matthew E ME; Mital, Seema S
Publication Date: 2016-02

Variant appearance in text: ZFPM2: M544I; rs187043152
PubMed Link: 25996639
Variant Present in the following documents:
  • Main text
  • emss-63304.pdf
View BVdb publication page



Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer.

Scientific Reports
Dorman, Stephanie N SN; Viner, Coby C; Rogan, Peter K PK
Publication Date: 2014-11-14

Variant appearance in text: ZFPM2: M544I; rs187043152
PubMed Link: 25394353
Variant Present in the following documents:
  • srep07063-s2.xls, sheet 2
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: ZFPM2: M544I
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Novel missense variants of ZFPM2/FOG2 identified in conotruncal heart defect patients do not impair interaction with GATA4.

Plos One
Zhang, Wenwen W; Shen, Li L; Deng, Zhantao Z; Ding, Yibing Y; Mo, Xuming X; Xu, Zhengfeng Z; Gao, Qian Q; Yi, Long L
Publication Date: 2014

Variant appearance in text: ZFPM2: M544I; rs187043152
PubMed Link: 25025186
Variant Present in the following documents:
  • Main text
  • pone.0102379.pdf
View BVdb publication page