QTRT2 c.*228G>A

Variant ID: 3-113804979-G-A

NM_024638.3(QTRT2):c.*228G>A

This variant was identified in 9 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: rs1872575
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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: rs1872575
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.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: rs1872575
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs1872575
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Genome-wide screen for universal individual identification SNPs based on the HapMap and 1000 Genomes databases.

Scientific Reports
Huang, Erwen E; Liu, Changhui C; Zheng, Jingjing J; Han, Xiaolong X; Du, Weian W; Huang, Yuanjian Y; Li, Chengshi C; Wang, Xiaoguang X; Tong, Dayue D; Ou, Xueling X; Sun, Hongyu H; Zeng, Zhaoshu Z; Liu, Chao C
Publication Date: 2018-04-03

Variant appearance in text: rs1872575
PubMed Link: 29615764
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_23888.pdf
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: rs1872575
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Simultaneous genomic identification and profiling of a single cell using semiconductor-based next generation sequencing.

Applied & Translational Genomics
Watanabe, Manabu M; Kusano, Junko J; Ohtaki, Shinsaku S; Ishikura, Takashi T; Katayama, Jin J; Koguchi, Akira A; Paumen, Michael M; Hayashi, Yoshiharu Y
Publication Date: 2014-09-01

Variant appearance in text: rs1872575
PubMed Link: 27294018
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Parallel Analysis of 124 Universal SNPs for Human Identification by Targeted Semiconductor Sequencing.

Scientific Reports
Zhang, Suhua S; Bian, Yingnan Y; Zhang, Zheren Z; Zheng, Hancheng H; Wang, Zheng Z; Zha, Lagabaiyila L; Cai, Jifeng J; Gao, Yuzhen Y; Ji, Chaoneng C; Hou, Yiping Y; Li, Chengtao C
Publication Date: 2015-12-22

Variant appearance in text: rs1872575
PubMed Link: 26691610
Variant Present in the following documents:
  • Main text
  • srep18683.pdf
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: rs1872575
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page