IRAK2 c.1502A>G ;(p.E501G)

Variant ID: 3-10280460-A-G

NM_001570.3(IRAK2):c.1502A>G;(p.E501G)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


The mutation profile of differentiated thyroid cancer coexisting with undifferentiated anaplastic cancer resembles that of anaplastic thyroid cancer but not that of archetypal differentiated thyroid cancer.

Journal Of Applied Genetics
Mika, Justyna J; Łabaj, Wojciech W; Chekan, Mykola M; Abramowicz, Agata A; Pietrowska, Monika M; Polański, Andrzej A; Widłak, Piotr P
Publication Date: 2021-02

Variant appearance in text: IRAK2: E501G
PubMed Link: 33222100
Variant Present in the following documents:
  • 13353_2020_594_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: IRAK2: E501G
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, sheet 2
  • mmc6.xlsx, sheet 1
View BVdb publication page



A coding IRAK2 protein variant compromises Toll-like receptor (TLR) signaling and is associated with colorectal cancer survival.

The Journal Of Biological Chemistry
Wang, Hui H; Flannery, Sinead M SM; Dickhöfer, Sabine S; Huhn, Stefanie S; George, Julie J; Kubarenko, Andriy V AV; Lascorz, Jesus J; Bevier, Melanie M; Willemsen, Joschka J; Pichulik, Tica T; Schafmayer, Clemens C; Binder, Marco M; Manoury, Bénédicte B; Paludan, Søren R SR; Alarcon-Riquelme, Marta M; Bowie, Andrew G AG; Försti, Asta A; Weber, Alexander N R ANR
Publication Date: 2014-08-15

Variant appearance in text: IRAK2: E501G
PubMed Link: 24973222
Variant Present in the following documents:
  • Main text
View BVdb publication page