TYR c.149C>T ;(p.S50L)

Variant ID: 11-88911270-C-T

NM_000372.4(TYR):c.149C>T;(p.S50L)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Investigation of nonsynonymous mutations in the spike protein of SARS-CoV-2 and its interaction with the ACE2 receptor by molecular docking and MM/GBSA approach.

Computers In Biology And Medicine
Aljindan, Reem Y RY; Al-Subaie, Abeer M AM; Al-Ohali, Ahoud I AI; Kumar D, Thirumal T; Doss C, George Priya GP; Kamaraj, Balu B
Publication Date: 2021-08

Variant appearance in text: TYR: S50L
PubMed Link: 34346317
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: TYR: S50L
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.

Cell & Bioscience
Gao, Jackson J; D'Souza, Leera L; Wetherby, Keith K; Antolik, Christian C; Reeves, Melissa M; Adams, David R DR; Tumminia, Santa S; Wang, Xinjing X
Publication Date: 2017

Variant appearance in text: TYR: 149C>T
PubMed Link: 28451379
Variant Present in the following documents:
  • Main text
View BVdb publication page



DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

Human Mutation
Simeonov, Dimitre R DR; Wang, Xinjing X; Wang, Chen C; Sergeev, Yuri Y; Dolinska, Monika M; Bower, Matthew M; Fischer, Roxanne R; Winer, David D; Dubrovsky, Genia G; Balog, Joan Z JZ; Huizing, Marjan M; Hart, Rachel R; Zein, Wadih M WM; Gahl, William A WA; Brooks, Brian P BP; Adams, David R DR
Publication Date: 2013-06

Variant appearance in text: TYR: 149C>T; S50L
PubMed Link: 23504663
Variant Present in the following documents:
  • Main text
View BVdb publication page