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IGF1R c.1550A>T ;(p.Y517F)
Variant ID: 15-99454631-A-T
NM_000875.3(
IGF1R
):c.1550A>T;(p.Y517F)
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:
Kinetics of Blood-Brain Barrier Transport of Monoclonal Antibodies Targeting the Insulin Receptor and the Transferrin Receptor.
Pharmaceuticals (Basel, Switzerland)
Pardridge, William M WM
Publication Date: 2021-12-21
Variant appearance in text: IGFR: Y517F
PubMed Link:
35056060
Variant Present in the following documents:
Main text
pharmaceuticals-15-00003.pdf
View BVdb publication page
Large-scale analysis of variation in the insulin-like growth factor family in humans reveals rare disease links and common polymorphisms.
The Journal Of Biological Chemistry
Rotwein, Peter P
Publication Date: 2017-06-02
Variant appearance in text: IGF1R: Y517F
PubMed Link:
28389567
Variant Present in the following documents:
Main text
View BVdb publication page