TET2 c.3035C>T ;(p.P1012L)

Variant ID: 4-106158134-C-T

NM_001127208.2(TET2):c.3035C>T;(p.P1012L)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


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: 3035C>T; Pro1012Leu; rs587778707
PubMed Link: 35279121
Variant Present in the following documents:
  • 12885_2022_9347_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Tumor genomic, transcriptomic, and immune profiling characterizes differential response to first-line platinum chemotherapy in high grade serous ovarian cancer.

Cancer Medicine
Weberpals, Johanne I JI; Pugh, Trevor J TJ; Marco-Casanova, Paola P; Goss, Glenwood D GD; Andrews Wright, Natalie N; Rath, Prisni P; Torchia, Jonathon J; Fortuna, Alexander A; Jones, Gemma N GN; Roudier, Martine P MP; Bernard, Laurence L; Lo, Bryan B; Torti, Dax D; Leon, Alberto A; Marsh, Kayla K; Hodgson, Darren D; Duciaume, Marc M; Howat, William J WJ; Lukashchuk, Natalia N; Lazic, Stanley E SE; Whelan, Doreen D; Sekhon, Harmanjatinder S HS
Publication Date: 2021-05

Variant appearance in text: TET2: P1012L; rs587778707
PubMed Link: 33811746
Variant Present in the following documents:
  • CAM4-10-3045-s001.xlsx, sheet 2
View BVdb publication page



Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Nature Communications
Bakouny, Ziad Z; Braun, David A DA; Shukla, Sachet A SA; Pan, Wenting W; Gao, Xin X; Hou, Yue Y; Flaifel, Abdallah A; Tang, Stephen S; Bosma-Moody, Alice A; He, Meng Xiao MX; Vokes, Natalie N; Nyman, Jackson J; Xie, Wanling W; Nassar, Amin H AH; Abou Alaiwi, Sarah S; Flippot, Ronan R; Bouchard, Gabrielle G; Steinharter, John A JA; Nuzzo, Pier Vitale PV; Ficial, Miriam M; Sant'Angelo, Miriam M; Forman, Juliet J; Berchuck, Jacob E JE; Dudani, Shaan S; Bi, Kevin K; Park, Jihye J; Camp, Sabrina S; Sticco-Ivins, Maura M; Hirsch, Laure L; Baca, Sylvan C SC; Wind-Rotolo, Megan M; Ross-Macdonald, Petra P; Sun, Maxine M; Lee, Gwo-Shu Mary GM; Chang, Steven L SL; Wei, Xiao X XX; McGregor, Bradley A BA; Harshman, Lauren C LC; Genovese, Giannicola G; Ellis, Leigh L; Pomerantz, Mark M; Hirsch, Michelle S MS; Freedman, Matthew L ML; Atkins, Michael B MB; Wu, Catherine J CJ; Ho, Thai H TH; Linehan, W Marston WM; McDermott, David F DF; Heng, Daniel Y C DYC; Viswanathan, Srinivas R SR; Signoretti, Sabina S; Van Allen, Eliezer M EM; Choueiri, Toni K TK
Publication Date: 2021-02-05

Variant appearance in text: TET2: 3035C>T; P1012L
PubMed Link: 33547292
Variant Present in the following documents:
  • 41467_2021_21068_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



MYC dysregulation in the progression of multiple myeloma.

Leukemia
Misund, Kristine K; Keane, Niamh N; Stein, Caleb K CK; Asmann, Yan W YW; Day, Grady G; Welsh, Seth S; Van Wier, Scott A SA; Riggs, Daniel L DL; Ahmann, Greg G; Chesi, Marta M; Viswanatha, David S DS; Kumar, Shaji K SK; Dispenzieri, Angela A; Gonzalez-Calle, Veronica V; Kyle, Robert A RA; O'Dwyer, Michael M; Rajkumar, S Vincent SV; Kortüm, K Martin KM; Keats, J Jonathan JJ; , ; Fonseca, Rafael R; Stewart, A Keith AK; Kuehl, W Michael WM; Braggio, Esteban E; Bergsagel, P Leif PL
Publication Date: 2020-01

Variant appearance in text: TET2: 3035C>T; Pro1012Leu
PubMed Link: 31439946
Variant Present in the following documents:
  • NIHMS1531599-supplement-Table.xlsx, sheet 13
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: 3035C>T; Pro1012Leu; rs587778707
PubMed Link: 31187595
Variant Present in the following documents:
View BVdb publication page



Acute myeloid leukemia masquerading as hepatocellular carcinoma.

Journal Of Gastrointestinal Oncology
Abu-Zeinah, Ghaith F GF; Weisman, Paul P; Ganesh, Karuna K; Katz, Seth S SS; Dogan, Ahmet A; Abou-Alfa, Ghassan K GK; Stein, Eytan M EM; Jarnagin, William W; Mauro, Michael J MJ; Harding, James J JJ
Publication Date: 2016-06

Variant appearance in text: TET2: P1012L
PubMed Link: 27284485
Variant Present in the following documents:
  • Main text
View BVdb publication page



Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: TET2: P1012L
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
View BVdb publication page