TET2 c.4048G>A ;(p.E1350K)

Variant ID: 4-106190770-G-A

NM_001127208.2(TET2):c.4048G>A;(p.E1350K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: 4048G>A; Glu1350Lys
PubMed Link: 31187595
Variant Present in the following documents:
View BVdb publication page



Evaluation of Patients and Families With Concern for Predispositions to Hematologic Malignancies Within the Hereditary Hematologic Malignancy Clinic (HHMC).

Clinical Lymphoma, Myeloma & Leukemia
DiNardo, Courtney D CD; Bannon, Sarah A SA; Routbort, Mark M; Franklin, Anna A; Mork, Maureen M; Armanios, Mary M; Mace, Emily M EM; Orange, Jordan S JS; Jeff-Eke, Meselle M; Churpek, Jane E JE; Takahashi, Koichi K; Jorgensen, Jeffrey L JL; Garcia-Manero, Guillermo G; Kornblau, Steve S; Bertuch, Alison A; Cheung, Hannah H; Bhalla, Kapil K; Futreal, Andrew A; Godley, Lucy A LA; Patel, Keyur P KP
Publication Date: 2016-07

Variant appearance in text: TET2: 4048G>A; E1350K
PubMed Link: 27210295
Variant Present in the following documents:
  • Main text
View BVdb publication page