TTN c.508G>C ;(p.D170H)

Variant ID: 2-179665197-C-G

NM_001267550.1(TTN):c.508G>C;(p.D170H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


JAK2 activation by growth hormone and other cytokines.

The Biochemical Journal
Waters, Michael J MJ; Brooks, Andrew J AJ
Publication Date: 2015-02-15

Variant appearance in text: TMD: D170H
PubMed Link: 25656053
Variant Present in the following documents:
  • Main text
  • bj4660001.pdf
View BVdb publication page



Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences.

Oncogene
Pugh, T J TJ; Yu, W W; Yang, J J; Field, A L AL; Ambrogio, L L; Carter, S L SL; Cibulskis, K K; Giannikopoulos, P P; Kiezun, A A; Kim, J J; McKenna, A A; Nickerson, E E; Getz, G G; Hoffher, S S; Messinger, Y H YH; Dehner, L P LP; Roberts, C W M CW; Rodriguez-Galindo, C C; Williams, G M GM; Rossi, C T CT; Meyerson, M M; Hill, D A DA
Publication Date: 2014-11-06

Variant appearance in text: TTN: 508G>C
PubMed Link: 24909177
Variant Present in the following documents:
  • onc2014150x7.xls, sheet 1
View BVdb publication page