MUC16 c.39581T>C ;(p.I13194T)

Variant ID: 19-9006667-A-G

NM_024690.2(MUC16):c.39581T>C;(p.I13194T)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


High-risk multiple myeloma predicted by circulating plasma cells and its genetic characteristics.

Frontiers In Oncology
Xia, Yuan Y; Shen, Na N; Zhang, Run R; Wu, Yujie Y; Shi, Qinglin Q; Li, Jianyong J; Chen, Lijuan L; Xu, Min M; Jin, Yuanyuan Y
Publication Date: 2023

Variant appearance in text: rs75101943
PubMed Link: 36845679
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters
Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV
Publication Date: 2023-02

Variant appearance in text: MUC16: 39581T>C; I13194T
PubMed Link: 36644153
Variant Present in the following documents:
  • Supplementary_Data5.xlsx, sheet 2
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: MUC16: I13194T; rs75101943
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.

Cell Death & Disease
Peng, Lin L; Zhao, Min M; Liu, Tianqi T; Chen, Jiangbo J; Gao, Pin P; Chen, Lei L; Xing, Pu P; Wang, Zaozao Z; Di, Jiabo J; Xu, Qiang Q; Qu, Hong H; Jiang, Beihai B; Su, Xiangqian X
Publication Date: 2022-04-22

Variant appearance in text: MUC16: I13194T
PubMed Link: 35459861
Variant Present in the following documents:
  • 41419_2022_4844_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

Bmc Medical Genomics
Fu, Weijia W; Huang, Aijie A; Cheng, Hui H; Luo, Yanrong Y; Gao, Lei L; Tang, Gusheng G; Yang, Jianmin J; Wang, Jianmin J; Ni, Xiong X
Publication Date: 2021-05-17

Variant appearance in text: MUC16: I13194T; rs75101943
PubMed Link: 34001105
Variant Present in the following documents:
  • 12920_2021_979_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.

Bmc Medical Genetics
Sha, Yanwei Y; Ma, Ding D; Zhang, Ning N; Wei, Xiaoli X; Liu, Wensheng W; Wang, Xiong X
Publication Date: 2019-08-01

Variant appearance in text: MUC16: I13194T; rs75101943
PubMed Link: 31370824
Variant Present in the following documents:
  • 12881_2019_864_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Synthetic modeling reveals HOXB genes are critical for the initiation and maintenance of human leukemia.

Nature Communications
Kusakabe, Manabu M; Sun, Ann Chong AC; Tyshchenko, Kateryna K; Wong, Rachel R; Nanda, Aastha A; Shanna, Claire C; Gusscott, Samuel S; Chavez, Elizabeth A EA; Lorzadeh, Alireza A; Zhu, Alice A; Hill, Ainsleigh A; Hung, Stacy S; Brown, Scott S; Babaian, Artem A; Wang, Xuehai X; Holt, Robert A RA; Steidl, Christian C; Karsan, Aly A; Humphries, R Keith RK; Eaves, Connie J CJ; Hirst, Martin M; Weng, Andrew P AP
Publication Date: 2019-07-02

Variant appearance in text: MUC16: 39581T>C; Ile13194Thr; rs75101943
PubMed Link: 31266935
Variant Present in the following documents:
  • 41467_2019_10510_MOESM8_ESM.xlsx, sheet 2
  • 41467_2019_10510_MOESM8_ESM.xlsx, sheet 3
  • 41467_2019_10510_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One
Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD
Publication Date: 2019

Variant appearance in text: MUC16: 39581T>C; Ile13194Thr
PubMed Link: 30608972
Variant Present in the following documents:
  • pone.0210079.s007.xlsx, sheet 19
  • pone.0210079.s007.xlsx, sheet 4
  • pone.0210079.s007.xlsx, sheet 18
  • pone.0210079.s007.xlsx, sheet 20
View BVdb publication page



A Recurrent Mutation in Anaplastic Lymphoma Kinase with Distinct Neoepitope Conformations.

Frontiers In Immunology
Toor, Jugmohit S JS; Rao, Arjun A AA; McShan, Andrew C AC; Yarmarkovich, Mark M; Nerli, Santrupti S; Yamaguchi, Karissa K; Madejska, Ada A AA; Nguyen, Son S; Tripathi, Sarvind S; Maris, John M JM; Salama, Sofie R SR; Haussler, David D; Sgourakis, Nikolaos G NG
Publication Date: 2018

Variant appearance in text: MUC16: I13194T
PubMed Link: 29441070
Variant Present in the following documents:
  • Data_Sheet_1.xlsx, sheet 5
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: MUC16: 39581T>C; I13194T; rs75101943
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s003.xlsx, sheet 1
  • oncotarget-08-99237-s002.xlsx, sheet 1
View BVdb publication page



Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications
Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML
Publication Date: 2017-02-10

Variant appearance in text: MUC16: I13194T; rs75101943
PubMed Link: 28186126
Variant Present in the following documents:
  • ncomms14262-s5.xlsx, 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: MUC16: I13194T; rs75101943
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



A Pilot Study Comparing HPV-Positive and HPV-Negative Head and Neck Squamous Cell Carcinomas by Whole Exome Sequencing.

Isrn Oncology
Nichols, Anthony C AC; Chan-Seng-Yue, Michelle M; Yoo, John J; Xu, Wei W; Dhaliwal, Sandeep S; Basmaji, John J; Szeto, Christopher C T CC; Dowthwaite, Samuel S; Todorovic, Biljana B; Starmans, Maud H W MH; Lambin, Philippe P; Palma, David A DA; Fung, Kevin K; Franklin, Jason H JH; Wehrli, Bret B; Kwan, Keith K; Koropatnick, James J; Mymryk, Joe S JS; Boutros, Paul P; Barrett, John W JW
Publication Date: 2012

Variant appearance in text: MUC16: I13194T; rs75101943
PubMed Link: 23304554
Variant Present in the following documents:
  • Main text
  • ISRN.ONCOLOGY2012-809370.pdf
View BVdb publication page