Bibliome.ai browser hg19
Search
About
Stats
FAQ
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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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