TYR c.650G>C ;(p.R217P)

Variant ID: 11-88911771-G-C

NM_000372.4(TYR):c.650G>C;(p.R217P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Alternative lengthening of telomeres in childhood neuroblastoma from genome to proteome.

Nature Communications
Hartlieb, Sabine A SA; Sieverling, Lina L; Nadler-Holly, Michal M; Ziehm, Matthias M; Toprak, Umut H UH; Herrmann, Carl C; Ishaque, Naveed N; Okonechnikov, Konstantin K; Gartlgruber, Moritz M; Park, Young-Gyu YG; Wecht, Elisa Maria EM; Savelyeva, Larissa L; Henrich, Kai-Oliver KO; Rosswog, Carolina C; Fischer, Matthias M; Hero, Barbara B; Jones, David T W DTW; Pfaff, Elke E; Witt, Olaf O; Pfister, Stefan M SM; Volckmann, Richard R; Koster, Jan J; Kiesel, Katharina K; Rippe, Karsten K; Taschner-Mandl, Sabine S; Ambros, Peter P; Brors, Benedikt B; Selbach, Matthias M; Feuerbach, Lars L; Westermann, Frank F
Publication Date: 2021-02-24

Variant appearance in text: rs61754365
PubMed Link: 33627664
Variant Present in the following documents:
  • 41467_2021_21247_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing provides insights into monogenic disease prevalence in Northwest Russia.

Molecular Genetics & Genomic Medicine
Barbitoff, Yury A YA; Skitchenko, Rostislav K RK; Poleshchuk, Olga I OI; Shikov, Anton E AE; Serebryakova, Elena A EA; Nasykhova, Yulia A YA; Polev, Dmitrii E DE; Shuvalova, Anna R AR; Shcherbakova, Irina V IV; Fedyakov, Mikhail A MA; Glotov, Oleg S OS; Glotov, Andrey S AS; Predeus, Alexander V AV
Publication Date: 2019-11

Variant appearance in text: rs61754365
PubMed Link: 31482689
Variant Present in the following documents:
  • Main text
  • MGG3-7-e964.pdf
View BVdb publication page