TET2 c.4140T>A ;(p.H1380Q)

Variant ID: 4-106190862-T-A

NM_001127208.2(TET2):c.4140T>A;(p.H1380Q)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


CHST15 gene germline mutation is associated with the development of familial myeloproliferative neoplasms and higher transformation risk.

Cell Death & Disease
Chen, Yi Y; Zhang, Yang Y; Wang, Zhihua Z; Wang, Yewei Y; Luo, Yujiao Y; Sun, Nannan N; Zheng, Shasha S; Yan, Wenzhe W; Xiao, Xiang X; Liu, Sufang S; Li, Ji J; Peng, Hongling H; Xu, Yunxiao Y; Hu, Guoyu G; Cheng, Zhao Z; Zhang, Guangsen G
Publication Date: 2022-07-07

Variant appearance in text: rs3733609
PubMed Link: 35798703
Variant Present in the following documents:
  • 41419_2022_Article_5035.pdf
View BVdb publication page



[Analysis of clinical significance and prognostic impact of TET2 single nucleotide polymorphism I1762V in patients with acute myeloid leukemia].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi
Li, Y W YW; Guo, Z Z; Wang, L L LL; Zhou, L L; Lyu, X D XD; Song, Y P YP
Publication Date: 2022-03-14

Variant appearance in text: rs3733609
PubMed Link: 35405783
Variant Present in the following documents:
  • Main text
  • cjh-43-03-241.pdf
View BVdb publication page



First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

Bmc Medical Genomics
Fu, Weijia W; Huang, Aijie A; Cheng, Hui H; Luo, Yanrong Y; Gao, Lei L; Tang, Gusheng G; Yang, Jianmin J; Wang, Jianmin J; Ni, Xiong X
Publication Date: 2021-05-17

Variant appearance in text: rs3733609
PubMed Link: 34001105
Variant Present in the following documents:
  • 12920_2021_979_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



TET2 rs1548483 SNP Associating with Susceptibility to Molecularly Annotated Polycythemia Vera and Primary Myelofibrosis.

Journal Of Personalized Medicine
Lighezan, Diana L DL; Bojan, Anca S AS; Iancu, Mihaela M; Pop, Raluca M RM; Gligor-Popa, Ștefana Ș; Tripon, Florin F; Cosma, Adriana S AS; Tomuleasa, Ciprian C; Dima, Delia D; Zdrenghea, Mihnea M; Fetica, Bogdan B; Ioniță, Ioana I; Gaál, Ildikó O IO; Vișan, Simona S; Mirea, Andreea-Manuela AM; Popp, Radu A RA; Florea, Mira M; Araniciu, Cătălin C; Petrescu, Lucian L; Pop, Ioan V IV; Bănescu, Claudia C; Trifa, Adrian P AP
Publication Date: 2020-12-01

Variant appearance in text: rs3733609
PubMed Link: 33271790
Variant Present in the following documents:
  • Main text
  • jpm-10-00259.pdf
View BVdb publication page



Genetic polymorphisms associated with telomere length and risk of developing myeloproliferative neoplasms.

Blood Cancer Journal
Giaccherini, Matteo M; Macauda, Angelica A; Sgherza, Nicola N; Sainz, Juan J; Gemignani, Federica F; Maldonado, Josè Manuel Sanchez JMS; Jurado, Manuel M; Tavano, Francesca F; Mazur, Grzegorz G; Jerez, Andrés A; Góra-Tybor, Joanna J; Gołos, Aleksandra A; Mohedo, Francisca Hernández FH; Lopez, Joaquin Martinez JM; Várkonyi, Judit J; Spadano, Raffaele R; Butrym, Aleksandra A; Canzian, Federico F; Campa, Daniele D
Publication Date: 2020-09-01

Variant appearance in text: rs3733609
PubMed Link: 32873778
Variant Present in the following documents:
  • 41408_2020_Article_356.pdf
View BVdb publication page



TET2 missense variants in human neoplasia. A proposal of structural and functional classification.

Molecular Genetics & Genomic Medicine
Bussaglia, Elena E; Antón, Rosa R; Nomdedéu, Josep F JF; Fuentes-Prior, Pablo P
Publication Date: 2019-07

Variant appearance in text: TET2: His1380Gln; rs3733609
PubMed Link: 31187595
Variant Present in the following documents:
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: TET2: 4140T>A; His1380Gln
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s2.xlsx, sheet 8
View BVdb publication page



Germline variations at JAK2, TERT, HBS1L-MYB and MECOM and the risk of myeloproliferative neoplasms in Taiwanese population.

Oncotarget
Chiang, Yi-Hao YH; Chang, Yu-Cheng YC; Lin, Huan-Chau HC; Huang, Ling L; Cheng, Chun-Chia CC; Wang, Wei-Ting WT; Cheng, Hung-I HI; Su, Nai-Wen NW; Chen, Caleb Gon-Shen CG; Lin, Johnson J; Chang, Yi-Fang YF; Chang, Ming-Chih MC; Hsieh, Ruey-Kuen RK; Chou, Wen-Chien WC; Lim, Ken-Hong KH; Kuo, Yuan-Yeh YY
Publication Date: 2017-09-29

Variant appearance in text: rs3733609
PubMed Link: 29100304
Variant Present in the following documents:
  • Main text
  • oncotarget-08-76204.pdf
View BVdb publication page



Adult T cell leukemia aggressivenness correlates with loss of both 5-hydroxymethylcytosine and TET2 expression.

Oncotarget
Marçais, Ambroise A; Waast, Laetitia L; Bruneau, Julie J; Hanssens, Katia K; Asnafi, Vahid V; Gaulard, Philippe P; Suarez, Felipe F; Dubreuil, Patrice P; Gessain, Antoine A; Hermine, Olivier O; Pique, Claudine C
Publication Date: 2017-08-08

Variant appearance in text: rs3733609
PubMed Link: 28881727
Variant Present in the following documents:
  • Main text
  • oncotarget-08-52256.pdf
View BVdb publication page



A TET2 rs3733609 C/T genotype is associated with predisposition to the myeloproliferative neoplasms harboring JAK2(V617F) and confers a proliferative potential on erythroid lineages.

Oncotarget
Shen, Xiao-hui XH; Sun, Nan-nan NN; Yin, Ya-fei YF; Liu, Su-fang SF; Liu, Xiao-liu XL; Peng, Hong-ling HL; Dai, Chong-wen CW; Xu, Yun-xiao YX; Deng, Ming-yang MY; Luo, Yun-ya YY; Zheng, Wen-li WL; Zhang, Guang-sen GS
Publication Date: 2016-02-23

Variant appearance in text: rs3733609
PubMed Link: 26843622
Variant Present in the following documents:
  • Main text
  • oncotarget-07-9550.pdf
View BVdb publication page



Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24

Variant appearance in text: rs3733609
PubMed Link: 25589003
Variant Present in the following documents:
  • 40478_2014_167_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page