TET2 c.1712G>A ;(p.R571H)

Variant ID: 4-106156811-G-A

NM_001127208.2(TET2):c.1712G>A;(p.R571H)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics
Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A
Publication Date: 2023

Variant appearance in text: TET2: 1712G>A; Arg571His
PubMed Link: 36923788
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
View BVdb publication page



Pedigree investigation, clinical characteristics, and prognosis analysis of haematological disease patients with germline TET2 mutation.

Bmc Cancer
Wu, Xia X; Deng, Jili J; Zhang, Nanchen N; Liu, Xiaoyan X; Zheng, Xue X; Yan, Tianyou T; Ye, Wu W; Gong, Yuping Y
Publication Date: 2022-03-12

Variant appearance in text: TET2: Arg571His
PubMed Link: 35279121
Variant Present in the following documents:
  • Main text
  • 12885_2022_Article_9347.pdf
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: TET2: 1712G>A; R571H
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Expression and prognosis analysis of TET family in acute myeloid leukemia.

Aging
Zhang, Tingjuan T; Zhao, Yangli Y; Zhao, Yangjing Y; Zhou, Jingdong J
Publication Date: 2020-03-25

Variant appearance in text: TET2: R571H
PubMed Link: 32209730
Variant Present in the following documents:
  • aging-12-102928-s004..xlsx, sheet 2
View BVdb publication page



Clinical utility of targeted gene enrichment and sequencing technique in the diagnosis of adult hereditary spherocytosis.

Annals Of Translational Medicine
Xue, Jun J; He, Qing Q; Xie, Xiaojing X; Su, Ailing A; Cao, Shibin S
Publication Date: 2019-10

Variant appearance in text: TET2: 1712G>A; R571H
PubMed Link: 31807509
Variant Present in the following documents:
  • Main text
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: 1712G>A; Arg571His; rs146049881
PubMed Link: 31187595
Variant Present in the following documents:
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: TET2: 1712G>A
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



Molecular basis of targeted therapy in T/NK-cell lymphoma/leukemia: A comprehensive genomic and immunohistochemical analysis of a panel of 33 cell lines.

Plos One
Mondejar, Rufino R; Pérez, Cristina C; Onaindia, Arantza A; Martinez, Nerea N; González-Rincón, Julia J; Pisonero, Helena H; Vaqué, Jose Pedro JP; Cereceda, Laura L; Santibañez, Miguel M; Sánchez-Beato, Margarita M; Piris, Miguel Angel MA
Publication Date: 2017

Variant appearance in text: TET2: 1712G>A; Arg571His; rs146049881
PubMed Link: 28505169
Variant Present in the following documents:
  • pone.0177524.s006.xlsx, sheet 1
View BVdb publication page