TET2 c.4100C>A ;(p.P1367Q)

Variant ID: 4-106190822-C-A

NM_001127208.2(TET2):c.4100C>A;(p.P1367Q)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics
Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS
Publication Date: 2022-08

Variant appearance in text: TET2: P1367Q
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Clonal myelopoiesis promotes adverse outcomes in chronic kidney disease.

Leukemia
Dawoud, Ahmed A Z AAZ; Gilbert, Rodney D RD; Tapper, William J WJ; Cross, Nicholas C P NCP
Publication Date: 2022-02

Variant appearance in text: TET2: P1367Q
PubMed Link: 34413458
Variant Present in the following documents:
  • 41375_2021_1382_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Integration of intra-sample contextual error modeling for improved detection of somatic mutations from deep sequencing.

Science Advances
Abelson, Sagi S; Zeng, Andy G X AGX; Nofech-Mozes, Ido I; Wang, Ting Ting TT; Ng, Stanley W K SWK; Minden, Mark D MD; Pugh, Trevor J TJ; Awadalla, Philip P; Shlush, Liran I LI; Murphy, Tracy T; Chan, Steven M SM; Dick, John E JE; Bratman, Scott V SV
Publication Date: 2020-12

Variant appearance in text: TET2: P1367Q
PubMed Link: 33298453
Variant Present in the following documents:
  • abe3722_Table_S6.xlsx, sheet 1
  • abe3722_Table_S3.xlsx, sheet 4
  • abe3722_Table_S4.xlsx, sheet 6
View BVdb publication page



Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes.

Nature Communications
Nagata, Yasunobu Y; Makishima, Hideki H; Kerr, Cassandra M CM; Przychodzen, Bartlomiej P BP; Aly, Mai M; Goyal, Abhinav A; Awada, Hassan H; Asad, Mohammad Fahad MF; Kuzmanovic, Teodora T; Suzuki, Hiromichi H; Yoshizato, Tetsuichi T; Yoshida, Kenichi K; Chiba, Kenichi K; Tanaka, Hiroko H; Shiraishi, Yuichi Y; Miyano, Satoru S; Mukherjee, Sudipto S; LaFramboise, Thomas T; Nazha, Aziz A; Sekeres, Mikkael A MA; Radivoyevitch, Tomas T; Haferlach, Torsten T; Ogawa, Seishi S; Maciejewski, Jaroslaw P JP
Publication Date: 2019-11-26

Variant appearance in text: TET2: P1367Q
PubMed Link: 31772163
Variant Present in the following documents:
  • 41467_2019_13001_MOESM4_ESM.xlsx, sheet 1
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: 4100C>A; Pro1367Gln
PubMed Link: 31187595
Variant Present in the following documents:
View BVdb publication page