TET2 c.2392G>A ;(p.E798K)

Variant ID: 4-106157491-G-A

NM_001127208.2(TET2):c.2392G>A;(p.E798K)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: TET2: 2392G>A; E798K
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Human Genomics
Nassir, Nasna N; Bankapur, Asma A; Samara, Bisan B; Ali, Abdulrahman A; Ahmed, Awab A; Inuwa, Ibrahim M IM; Zarrei, Mehdi M; Safizadeh Shabestari, Seyed Ali SA; AlBanna, Ammar A; Howe, Jennifer L JL; Berdiev, Bakhrom K BK; Scherer, Stephen W SW; Woodbury-Smith, Marc M; Uddin, Mohammed M
Publication Date: 2021-11-21

Variant appearance in text: TET2: E798K; rs777279382
PubMed Link: 34802461
Variant Present in the following documents:
  • 40246_2021_368_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Targeted next generation sequencing identified clinically actionable mutations in patients with esophageal sarcomatoid carcinoma.

Bmc Cancer
Lu, Hongyang H; Yang, Shifeng S; Zhu, Huineng H; Tong, Xiaoling X; Xie, Fajun F; Qin, Jing J; Han, Na N; Wu, Xue X; Fan, Yun Y; Shao, Yang W YW; Mao, Weimin W
Publication Date: 2018-03-05

Variant appearance in text: TET2: E798K
PubMed Link: 29506494
Variant Present in the following documents:
  • 12885_2018_4159_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genome-wide characteristics of de novo mutations in autism.

Npj Genomic Medicine
Yuen, Ryan K C RK; Merico, Daniele D; Cao, Hongzhi H; Pellecchia, Giovanna G; Alipanahi, Babak B; Thiruvahindrapuram, Bhooma B; Tong, Xin X; Sun, Yuhui Y; Cao, Dandan D; Zhang, Tao T; Wu, Xueli X; Jin, Xin X; Zhou, Ze Z; Liu, Xiaomin X; Nalpathamkalam, Thomas T; Walker, Susan S; Howe, Jennifer L JL; Wang, Zhuozhi Z; MacDonald, Jeffrey R JR; Chan, Ada A; D'Abate, Lia L; Deneault, Eric E; Siu, Michelle T MT; Tammimies, Kristiina K; Uddin, Mohammed M; Zarrei, Mehdi M; Wang, Mingbang M; Li, Yingrui Y; Wang, Jun J; Wang, Jian J; Yang, Huanming H; Bookman, Matt M; Bingham, Jonathan J; Gross, Samuel S SS; Loy, Dion D; Pletcher, Mathew M; Marshall, Christian R CR; Anagnostou, Evdokia E; Zwaigenbaum, Lonnie L; Weksberg, Rosanna R; Fernandez, Bridget A BA; Roberts, Wendy W; Szatmari, Peter P; Glazer, David D; Frey, Brendan J BJ; Ring, Robert H RH; Xu, Xun X; Scherer, Stephen W SW
Publication Date: 2016-08-03

Variant appearance in text: TET2: E798K
PubMed Link: 27525107
Variant Present in the following documents:
  • npjgenmed201627-s3.xlsx, sheet 10
View BVdb publication page