PRRT2 c.*579T>A

Variant ID: 16-29826538-T-A

NM_145239.2(PRRT2):c.*579T>A

This variant was identified in 11 publications

View GRCh38 version.




Publications:


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: rs10204
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: rs10204
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs10204
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: rs10204
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



Neurodevelopmental trajectory and modifiers of 16p11.2 microdeletion: A follow-up study of four Chinese children carriers.

Molecular Genetics & Genomic Medicine
Xie, Hua H; Liu, Fang F; Zhang, Yu Y; Chen, Qian Q; Shangguan, Shaofang S; Gao, Zhijie Z; Wu, Nan N; Wang, Jian J; Cui, Xiaodai X; Wang, Lin L; Chen, Xiaoli X
Publication Date: 2020-11

Variant appearance in text: rs10204
PubMed Link: 32870608
Variant Present in the following documents:
  • Main text
View BVdb publication page



Breakdown of multiple sclerosis genetics to identify an integrated disease network and potential variant mechanisms.

Physiological Genomics
Shepard, C Joy CJ; Cline, Sara G SG; Hinds, David D; Jahanbakhsh, Seyedehameneh S; Prokop, Jeremy W JW
Publication Date: 2019-11-01

Variant appearance in text: rs10204
PubMed Link: 31482761
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs10204
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
  • oncotarget-08-95841-s002.xlsx, sheet 1
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs10204
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs10204
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



PRRT2 c.649dupC mutation derived from de novo in paroxysmal kinesigenic dyskinesia.

Cns Neuroscience & Therapeutics
Li, Hong-Fu HF; Ni, Wang W; Xiong, Zhi-Qi ZQ; Xu, Jianfeng J; Wu, Zhi-Ying ZY
Publication Date: 2013-01

Variant appearance in text: rs10204
PubMed Link: 23176561
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effect of bevacizumab treatment on p-boronophenylalanine distribution in murine tumor.

Journal Of Radiation Research
Liu, Yong Y; Suzuki, Minoru M; Masunaga, Shin-Ichiro S; Chen, Yi-Wei YW; Kashino, Genro G; Tanaka, Hiroki H; Sakurai, Yoshinori Y; Kirihata, Mitsunori M; Ono, Koji K
Publication Date: 2013-03-01

Variant appearance in text: rs10204
PubMed Link: 23135099
Variant Present in the following documents:
  • Main text
View BVdb publication page