TET2 c.5639T>C ;(p.L1880P)

Variant ID: 4-106197306-T-C

NM_001127208.2(TET2):c.5639T>C;(p.L1880P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Novel Mutations and Decreased Expression of the Epigenetic Regulator TET2 in Pulmonary Arterial Hypertension.

Circulation
Potus, François F; Pauciulo, Michael W MW; Cook, Elina K EK; Zhu, Na N; Hsieh, Alexander A; Welch, Carrie L CL; Shen, Yufeng Y; Tian, Lian L; Lima, Patricia P; Mewburn, Jeffrey J; D'Arsigny, Christine L CL; Lutz, Katie A KA; Coleman, Anna W AW; Damico, Rachel R; Snetsinger, Brooke B; Martin, Ashley Y AY; Hassoun, Paul M PM; Nichols, William C WC; Chung, Wendy K WK; Rauh, Michael J MJ; Archer, Stephen L SL
Publication Date: 2020-06-16

Variant appearance in text: TET2: 5639T>C; Leu1880Pro
PubMed Link: 32192357
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular characterisation of triple negative essential thrombocythaemia patients by platelet analysis and targeted sequencing.

Blood Cancer Journal
Angona, A A; Fernández-Rodríguez, C C; Alvarez-Larrán, A A; Camacho, L L; Longarón, R R; Torres, E E; Pairet, S S; Besses, C C; Bellosillo, B B
Publication Date: 2016-08-26

Variant appearance in text: TET2: Leu1880Pro
PubMed Link: 27564461
Variant Present in the following documents:
  • Main text
  • bcj201675a.pdf
View BVdb publication page