NOS1AP c.*2322T>A

Variant ID: 1-162339579-T-A

NM_014697.2(NOS1AP):c.*2322T>A

This variant was identified in 4 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: rs164588
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: rs164588
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
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: rs164588
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.

Bmc Medical Genetics
Mancini, Cecilia C; Orsi, Laura L; Guo, Yiran Y; Li, Jiankang J; Chen, Yulan Y; Wang, Fengxiang F; Tian, Lifeng L; Liu, Xuanzhu X; Zhang, Jianguo J; Jiang, Hui H; Nmezi, Bruce Shike BS; Tatsuta, Takashi T; Giorgio, Elisa E; Di Gregorio, Eleonora E; Cavalieri, Simona S; Pozzi, Elisa E; Mortara, Paolo P; Caglio, Maria Marcella MM; Balducci, Alessandro A; Pinessi, Lorenzo L; Langer, Thomas T; Padiath, Quasar S QS; Hakonarson, Hakon H; Zhang, Xiuqing X; Brusco, Alfredo A
Publication Date: 2015-03-19

Variant appearance in text: rs164588
PubMed Link: 25927548
Variant Present in the following documents:
View BVdb publication page