TET2 c.4114A>T ;(p.T1372S)

Variant ID: 4-106190836-A-T

NM_001127208.2(TET2):c.4114A>T;(p.T1372S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: TET2: 4114A>T; Thr1372Ser
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s6.xlsx, sheet 9
  • bty518_supplementary_data_s2.xlsx, sheet 9
View BVdb publication page



Mutations along a TET2 active site scaffold stall oxidation at 5-hydroxymethylcytosine.

Nature Chemical Biology
Liu, Monica Yun MY; Torabifard, Hedieh H; Crawford, Daniel J DJ; DeNizio, Jamie E JE; Cao, Xing-Jun XJ; Garcia, Benjamin A BA; Cisneros, G Andrés GA; Kohli, Rahul M RM
Publication Date: 2017-02

Variant appearance in text: TET2: T1372S
PubMed Link: 27918559
Variant Present in the following documents:
  • Main text
View BVdb publication page