EGF c.566_567delinsAG ;(p.G189E)

Variant ID: 4-110865054-GT-AG

NM_001963.4(EGF):c.566_567delinsAG;(p.G189E)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Structure, function, and pathology of protein O-glucosyltransferases.

Cell Death & Disease
Mehboob, Muhammad Zubair MZ; Lang, Minglin M
Publication Date: 2021-01-12

Variant appearance in text: EGF: G189E
PubMed Link: 33436558
Variant Present in the following documents:
  • Main text
  • 41419_2020_Article_3314.pdf
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Structural analysis of Notch-regulating Rumi reveals basis for pathogenic mutations.

Nature Chemical Biology
Yu, Hongjun H; Takeuchi, Hideyuki H; Takeuchi, Megumi M; Liu, Qun Q; Kantharia, Joshua J; Haltiwanger, Robert S RS; Li, Huilin H
Publication Date: 2016-09

Variant appearance in text: EGF: G189E
PubMed Link: 27428513
Variant Present in the following documents:
  • Main text
  • nihms787740.pdf
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The protein O-glucosyltransferase Rumi modifies eyes shut to promote rhabdomere separation in Drosophila.

Plos Genetics
Haltom, Amanda R AR; Lee, Tom V TV; Harvey, Beth M BM; Leonardi, Jessica J; Chen, Yi-Jiun YJ; Hong, Yang Y; Haltiwanger, Robert S RS; Jafar-Nejad, Hamed H
Publication Date: 2014-11

Variant appearance in text: EGF: G189E
PubMed Link: 25412384
Variant Present in the following documents:
  • Main text
View BVdb publication page



Significance of glycosylation in Notch signaling.

Biochemical And Biophysical Research Communications
Takeuchi, Hideyuki H; Haltiwanger, Robert S RS
Publication Date: 2014-10-17

Variant appearance in text: EGF: G189E
PubMed Link: 24909690
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rumi functions as both a protein O-glucosyltransferase and a protein O-xylosyltransferase.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Takeuchi, Hideyuki H; Fernández-Valdivia, Rodrigo C RC; Caswell, Devin S DS; Nita-Lazar, Aleksandra A; Rana, Nadia A NA; Garner, Thomas P TP; Weldeghiorghis, Thomas K TK; Macnaughtan, Megan A MA; Jafar-Nejad, Hamed H; Haltiwanger, Robert S RS
Publication Date: 2011-10-04

Variant appearance in text: EGF: G189E
PubMed Link: 21949356
Variant Present in the following documents:
  • Main text
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Rumi is a CAP10 domain glycosyltransferase that modifies Notch and is required for Notch signaling.

Cell
Acar, Melih M; Jafar-Nejad, Hamed H; Takeuchi, Hideyuki H; Rajan, Akhila A; Ibrani, Dafina D; Rana, Nadia A NA; Pan, Hongling H; Haltiwanger, Robert S RS; Bellen, Hugo J HJ
Publication Date: 2008-01-25

Variant appearance in text: EGF: G189E
PubMed Link: 18243100
Variant Present in the following documents:
  • Main text
View BVdb publication page