IRAK4 c.58A>T ;(p.R20W)

Variant ID: 12-44161972-A-T

NM_016123.3(IRAK4):c.58A>T;(p.R20W)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters
Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV
Publication Date: 2023-02

Variant appearance in text: IRAK4: 58A>T; R20W
PubMed Link: 36644153
Variant Present in the following documents:
  • Supplementary_Data5.xlsx, sheet 1
View BVdb publication page



Protein condensation diseases: therapeutic opportunities.

Nature Communications
Vendruscolo, Michele M; Fuxreiter, Monika M
Publication Date: 2022-09-22

Variant appearance in text: IRAK4: R20W
PubMed Link: 36138006
Variant Present in the following documents:
  • 41467_2022_Article_32940.pdf
View BVdb publication page



IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation.

Journal Of Clinical Immunology
Nishimura, Shiho S; Kobayashi, Yoshiyuki Y; Ohnishi, Hidenori H; Moriya, Kunihiko K; Tsumura, Miyuki M; Sakata, Sonoko S; Mizoguchi, Yoko Y; Takada, Hidetoshi H; Kato, Zenichiro Z; Sancho-Shimizu, Vanessa V; Picard, Capucine C; Irani, Sarosh R SR; Ohara, Osamu O; Casanova, Jean-Laurent JL; Puel, Anne A; Ishikawa, Nobutsune N; Okada, Satoshi S; Kobayashi, Masao M
Publication Date: 2021-01

Variant appearance in text: IRAK4: R20W
PubMed Link: 33083971
Variant Present in the following documents:
  • Main text
  • 10875_2020_Article_885.pdf
View BVdb publication page



Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12

Variant appearance in text: rs143625818
PubMed Link: 31515488
Variant Present in the following documents:
  • 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
  • 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page