MUC16 c.39235G>A ;(p.V13079M)

Variant ID: 19-9008317-C-T

NM_024690.2(MUC16):c.39235G>A;(p.V13079M)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


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: MUC16: V13079M
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Acta Neuropathologica Communications
Park, Hongsun H; Yamanaka, Tomoyuki T; Toyama, Yumiko Y; Fujita, Atsushi A; Doi, Hiroshi H; Nirasawa, Takashi T; Murayama, Shigeo S; Matsumoto, Naomichi N; Shimogori, Tomomi T; Ikegawa, Masaya M; Haltia, Matti J MJ; Nukina, Nobuyuki N
Publication Date: 2022-03-04

Variant appearance in text: MUC16: V13079M
PubMed Link: 35246273
Variant Present in the following documents:
  • 40478_2022_1333_MOESM3_ESM.xlsx, sheet 2
  • 40478_2022_1333_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Proteogenomic Analysis Unveils the HLA Class I-Presented Immunopeptidome in Melanoma and EGFR-Mutant Lung Adenocarcinoma.

Molecular & Cellular Proteomics : Mcp
Qi, Yue A YA; Maity, Tapan K TK; Cultraro, Constance M CM; Misra, Vikram V; Zhang, Xu X; Ade, Catherine C; Gao, Shaojian S; Milewski, David D; Nguyen, Khoa D KD; Ebrahimabadi, Mohammad H MH; Hanada, Ken-Ichi KI; Khan, Javed J; Sahinalp, Cenk C; Yang, James C JC; Guha, Udayan U
Publication Date: 2021

Variant appearance in text: MUC16: 39235G>A; V13079M
PubMed Link: 34391887
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Proteogenomic Analysis Unveils the HLA Class I-Presented Immunopeptidome in Melanoma and EGFR-Mutant Lung Adenocarcinoma.

Molecular & Cellular Proteomics : Mcp
Qi, Yue A YA; Maity, Tapan K TK; Cultraro, Constance M CM; Misra, Vikram V; Zhang, Xu X; Ade, Catherine C; Gao, Shaojian S; Milewski, David D; Nguyen, Khoa D KD; Ebrahimabadi, Mohammad H MH; Hanada, Ken-Ichi KI; Khan, Javed J; Sahinalp, Cenk C; Yang, James C JC; Guha, Udayan U
Publication Date: 2021-08-13

Variant appearance in text: MUC16: 39235G>A; V13079M
PubMed Link: 34391887
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: MUC16: 39235G>A; Val13079Met; rs796696964
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



Clonal Evolution and Heterogeneity of Osimertinib Acquired Resistance Mechanisms in EGFR Mutant Lung Cancer.

Cell Reports. Medicine
Roper, Nitin N; Brown, Anna-Leigh AL; Wei, Jun S JS; Pack, Svetlana S; Trindade, Christopher C; Kim, Chul C; Restifo, Olivia O; Gao, Shaojian S; Sindiri, Sivasish S; Mehrabadi, Farid F; El Meskini, Rajaa R; Ohler, Zoe Weaver ZW; Maity, Tapan K TK; Venugopalan, Abhilash A; Cultraro, Constance M CM; Akoth, Elizabeth E; Padiernos, Emerson E; Chen, Haobin H; Kesarwala, Aparna A; Smart, DeeDee K DK; Nilubol, Naris N; Rajan, Arun A; Piotrowska, Zofia Z; Xi, Liqiang L; Raffeld, Mark M; Panchenko, Anna R AR; Sahinalp, Cenk C; Hewitt, Stephen S; Hoang, Chuong D CD; Khan, Javed J; Guha, Udayan U
Publication Date: 2020-04-21

Variant appearance in text: MUC16: V13079M
PubMed Link: 32483558
Variant Present in the following documents:
  • mmc4.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: V13079M; rs796696964
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: 39235G>A; Val13079Met
PubMed Link: 31266935
Variant Present in the following documents:
  • 41467_2019_10510_MOESM8_ESM.xlsx, sheet 2
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: 39235G>A; Val13079Met
PubMed Link: 30608972
Variant Present in the following documents:
  • pone.0210079.s007.xlsx, sheet 4
  • pone.0210079.s007.xlsx, sheet 3
  • pone.0210079.s007.xlsx, sheet 18
  • pone.0210079.s007.xlsx, sheet 20
  • pone.0210079.s007.xlsx, sheet 19
View BVdb publication page



Exome and copy number variation analyses of Mayer-Rokitansky-Küster- Hauser syndrome.

Human Genome Variation
Takahashi, Kazumi K; Hayano, Takahide T; Sugimoto, Ryota R; Kashiwagi, Hirofumi H; Shinoda, Mari M; Nishijima, Yoshihiro Y; Suzuki, Takahiro T; Suzuki, Shingo S; Ohnuki, Yuko Y; Kondo, Akane A; Shiina, Takashi T; Nakaoka, Hirofumi H; Inoue, Ituro I; Izumi, Shun-Ichiro SI
Publication Date: 2018

Variant appearance in text: MUC16: V13079M
PubMed Link: 30302266
Variant Present in the following documents:
  • 41439_2018_28_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page