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FBN1 c.5783G>A ;(p.C1928Y)
Variant ID: 15-48738908-C-T
NM_000138.4(
FBN1
):c.5783G>A;(p.C1928Y)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Are transient protein-protein interactions more dispensable?
Plos Computational Biology
Ghadie, Mohamed Ali MA; Xia, Yu Y
Publication Date: 2022-04
Variant appearance in text: FBN1: 5783G>A; Cys1928Tyr
PubMed Link:
35404956
Variant Present in the following documents:
pcbi.1010013.s002.xlsx, sheet 4
View BVdb publication page
Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.
Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09
Variant appearance in text: FBN1: 5783G>A; C1928Y
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Nucleic Acids Research
Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH
Publication Date: 2009-03
Variant appearance in text: FBN1: C1928Y
PubMed Link:
19139070
Variant Present in the following documents:
gkn1008_nar-01723-s-2008-File009.xls, sheet 2
gkn1008_nar-01723-s-2008-File011.xls, sheet 2
View BVdb publication page