EGF c.1642_1643delinsTA ;(p.R548*)

Variant ID: 4-110890193-AG-TA

NM_001963.4(EGF):c.1642_1643delinsTA;(p.R548*)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

The lysosomal inhibitor, chloroquine, increases cell surface BMPR-II levels and restores BMP9 signalling in endothelial cells harbouring BMPR-II mutations.

Human Molecular Genetics
Dunmore, Benjamin J BJ; Drake, Kylie M KM; Upton, Paul D PD; Toshner, Mark R MR; Aldred, Micheala A MA; Morrell, Nicholas W NW
Publication Date: 2013-09-15

Variant appearance in text: EGF: R548X
PubMed Link: 23669347
Variant Present in the following documents:
  • Main text
  • ddt216.pdf
View BVdb publication page