MED16 c.1729G>A ;(p.G577S)

Variant ID: 19-875286-C-T

NM_005481.2(MED16):c.1729G>A;(p.G577S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Association of protein function-altering variants with cardiometabolic traits: the strong heart study.

Scientific Reports
Shan, Yue Y; Cole, Shelley A SA; Haack, Karin K; Melton, Phillip E PE; Best, Lyle G LG; Bizon, Christopher C; Kobes, Sayuko S; Köroğlu, Çiğdem Ç; Baier, Leslie J LJ; Hanson, Robert L RL; Sanna, Serena S; Li, Yun Y; Franceschini, Nora N
Publication Date: 2022-06-04

Variant appearance in text: MED16: G577S; rs778591565
PubMed Link: 35665752
Variant Present in the following documents:
  • 41598_2022_12866_MOESM2_ESM.xlsx, sheet 3
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: MED16: 1729G>A; G577S
PubMed Link: 24909177
Variant Present in the following documents:
  • onc2014150x7.xls, sheet 2
View BVdb publication page