EGF c.184G>A ;(p.E62K)

Variant ID: 4-110862158-G-A

NM_001963.4(EGF):c.184G>A;(p.E62K)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis.

Cold Spring Harbor Molecular Case Studies
Thibodeau, My Linh ML; Zhao, Eric Y EY; Reisle, Caralyn C; Ch'ng, Carolyn C; Wong, Hui-Li HL; Shen, Yaoqing Y; Jones, Martin R MR; Lim, Howard J HJ; Young, Sean S; Cremin, Carol C; Pleasance, Erin E; Zhang, Wei W; Holt, Robert R; Eirew, Peter P; Karasinska, Joanna J; Kalloger, Steve E SE; Taylor, Greg G; Majounie, Elisa E; Bonakdar, Melika M; Zong, Zusheng Z; Bleile, Dustin D; Chiu, Readman R; Birol, Inanc I; Gelmon, Karen K; Lohrisch, Caroline C; Mungall, Karen L KL; Mungall, Andrew J AJ; Moore, Richard R; Ma, Yussanne P YP; Fok, Alexandra A; Yip, Stephen S; Karsan, Aly A; Huntsman, David D; Schaeffer, David F DF; Laskin, Janessa J; Marra, Marco A MA; Renouf, Daniel J DJ; Jones, Steven J M SJM; Schrader, Kasmintan A KA
Publication Date: 2019-04

Variant appearance in text: EGF: 184G>A; E62K
PubMed Link: 30833417
Variant Present in the following documents:
  • supp_mcs.a003681_Supplemental_Table_S2.xlsx, sheet 3
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: EGF: 184G>A; Glu62Lys
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications
Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML
Publication Date: 2017-02-10

Variant appearance in text: EGF: E62K
PubMed Link: 28186126
Variant Present in the following documents:
  • ncomms14262-s5.xlsx, sheet 2
View BVdb publication page



The structure of MESD45-184 brings light into the mechanism of LDLR family folding.

Structure (London, England : 1993)
Köhler, Christian C; Lighthouse, Janet K JK; Werther, Tobias T; Andersen, Olav M OM; Diehl, Annette A; Schmieder, Peter P; Du, Jianguang J; Holdener, Bernadette C BC; Oschkinat, Hartmut H
Publication Date: 2011-03-09

Variant appearance in text: EGF: E62K
PubMed Link: 21397185
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cad74A is regulated by BR and is required for robust dorsal appendage formation in Drosophila oogenesis.

Developmental Biology
Zartman, Jeremiah J JJ; Yakoby, Nir N; Bristow, Christopher A CA; Zhou, Xiaofeng X; Schlichting, Karin K; Dahmann, Christian C; Shvartsman, Stanislav Y SY
Publication Date: 2008-10-15

Variant appearance in text: EGF: E62K
PubMed Link: 18708045
Variant Present in the following documents:
  • Main text
View BVdb publication page