TET2 c.3953A>G ;(p.E1318G)

Variant ID: 4-106180925-A-G

NM_001127208.2(TET2):c.3953A>G;(p.E1318G)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology
Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J
Publication Date: 2022

Variant appearance in text: TET2: 3953A>G; E1318G
PubMed Link: 35814426
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 2
View BVdb publication page



Clinico-Biological Features and Clonal Hematopoiesis in Patients with Severe COVID-19.

Cancers
Duployez, Nicolas N; Demonchy, Jordane J; Berthon, Céline C; Goutay, Julien J; Caplan, Morgan M; Moreau, Anne-Sophie AS; Bignon, Anne A; Marceau-Renaut, Alice A; Garrigue, Delphine D; Raczkiewicz, Imelda I; Geffroy, Sandrine S; Bucci, Maxime M; Alidjinou, Kazali K; Demaret, Julie J; Labalette, Myriam M; Brousseau, Thierry T; Dupont, Annabelle A; Rauch, Antoine A; Poissy, Julien J; Susen, Sophie S; Preudhomme, Claude C; Quesnel, Bruno B
Publication Date: 2020-07-21

Variant appearance in text: TET2: 3953A>G; E1318G
PubMed Link: 32708264
Variant Present in the following documents:
  • cancers-12-01992-s001.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: 3953A>G; Glu1318Gly
PubMed Link: 31187595
Variant Present in the following documents:
View BVdb publication page



Impact of copy neutral loss of heterozygosity and total genome aberrations on survival in myelodysplastic syndrome.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Yeung, Cecilia C S CCS; McElhone, Scott S; Chen, Xue Yan XY; Ng, David D; Storer, Barry E BE; Deeg, H Joachim HJ; Fang, Min M
Publication Date: 2018-04

Variant appearance in text: TET2: 3953A>G; E1318G
PubMed Link: 29243741
Variant Present in the following documents:
  • Main text
  • nihms911889.pdf
View BVdb publication page



Jumping translocations in myelodysplastic syndromes.

Cancer Genetics
Yeung, Cecilia C S CCS; Deeg, H Joachim HJ; Pritchard, Colin C; Wu, David D; Fang, Min M
Publication Date: 2016-09

Variant appearance in text: TET2: 3953A>G; E1318G
PubMed Link: 27751357
Variant Present in the following documents:
  • Main text
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: TET2: E1318G
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Feature-based classification of amino acid substitutions outside conserved functional protein domains.

Thescientificworldjournal
Gemovic, Branislava B; Perovic, Vladimir V; Glisic, Sanja S; Veljkovic, Nevena N
Publication Date: 2013

Variant appearance in text: TET2: E1318G
PubMed Link: 24348198
Variant Present in the following documents:
  • 948617.f1.pdf
View BVdb publication page



Impaired hydroxylation of 5-methylcytosine in myeloid cancers with mutant TET2.

Nature
Ko, Myunggon M; Huang, Yun Y; Jankowska, Anna M AM; Pape, Utz J UJ; Tahiliani, Mamta M; Bandukwala, Hozefa S HS; An, Jungeun J; Lamperti, Edward D ED; Koh, Kian Peng KP; Ganetzky, Rebecca R; Liu, X Shirley XS; Aravind, L L; Agarwal, Suneet S; Maciejewski, Jaroslaw P JP; Rao, Anjana A
Publication Date: 2010-12-09

Variant appearance in text: TET2: E1318G
PubMed Link: 21057493
Variant Present in the following documents:
  • Main text
  • nihms247005.pdf
  • NIHMS247005-supplement-3.pdf
View BVdb publication page



Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms.

Blood
Jankowska, Anna M AM; Szpurka, Hadrian H; Tiu, Ramon V RV; Makishima, Hideki H; Afable, Manuel M; Huh, Jungwon J; O'Keefe, Christine L CL; Ganetzky, Rebecca R; McDevitt, Michael A MA; Maciejewski, Jaroslaw P JP
Publication Date: 2009-06-18

Variant appearance in text: TET2: E1318G
PubMed Link: 19372255
Variant Present in the following documents:
  • Main text
View BVdb publication page