MAVS c.592C>T ;(p.Q198*)

Variant ID: 20-3843027-C-T

NM_020746.4(MAVS):c.592C>T;(p.Q198*)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: rs7262903
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs7262903
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



Identification of MAVS as a Novel Risk Factor for the Development of Osteoarthritis.

Aging And Disease
Liu, Jie J; Tang, Ling-Yun LY; Wang, Yan-Gui YG; Lu, Shun-Yuan SY; Zhang, En-Ning EN; Wang, Zhu-Gang ZG; Zhang, Hong-Xin HX
Publication Date: 2018-02

Variant appearance in text: rs7262903
PubMed Link: 29392080
Variant Present in the following documents:
  • Main text
  • ad-9-1-40.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs7262903
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Association of symptoms and severity of rift valley fever with genetic polymorphisms in human innate immune pathways.

Plos Neglected Tropical Diseases
Hise, Amy G AG; Traylor, Zachary Z; Hall, Noémi B NB; Sutherland, Laura J LJ; Dahir, Saidi S; Ermler, Megan E ME; Muiruri, Samuel S; Muchiri, Eric M EM; Kazura, James W JW; LaBeaud, A Desirée AD; King, Charles H CH; Stein, Catherine M CM
Publication Date: 2015-03

Variant appearance in text: rs7262903
PubMed Link: 25756647
Variant Present in the following documents:
  • Main text
  • pntd.0003584.pdf
View BVdb publication page



The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: rs7262903
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File014.xlsx, sheet 10
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: rs7262903
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



Genetic variation in TLR or NFkappaB pathways and the risk of breast cancer: a case-control study.

Bmc Cancer
Resler, Alexa J AJ; Malone, Kathleen E KE; Johnson, Lisa G LG; Malkki, Mari M; Petersdorf, Effie W EW; McKnight, Barbara B; Madeleine, Margaret M MM
Publication Date: 2013-05-01

Variant appearance in text: rs7262903
PubMed Link: 23634849
Variant Present in the following documents:
View BVdb publication page