TTN c.850T>C ;(p.S284P)

Variant ID: 2-179664278-A-G

NM_001267550.1(TTN):c.850T>C;(p.S284P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mas-Related G Protein-Coupled Receptor-X2 (MRGPRX2) in Drug Hypersensitivity Reactions.

Frontiers In Immunology
Porebski, Grzegorz G; Kwiecien, Kamila K; Pawica, Magdalena M; Kwitniewski, Mateusz M
Publication Date: 2018

Variant appearance in text: TMD: Ser284Pro
PubMed Link: 30619367
Variant Present in the following documents:
  • Main text
  • fimmu-09-03027.pdf
View BVdb publication page



GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations.

International Journal Of Molecular Sciences
De Vilder, Eva Y G EY; Debacker, Jens J; Vanakker, Olivier M OM
Publication Date: 2017-01-25

Variant appearance in text: TMD: 850T>C
PubMed Link: 28125048
Variant Present in the following documents:
  • Main text
  • ijms-18-00240.pdf
View BVdb publication page