MEFV c.436C>T ;(p.Q146*)

Variant ID: 16-3304632-G-A

NM_000243.2(MEFV):c.436C>T;(p.Q146*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Latency and interval therapy affect the evolution in metastatic colorectal cancer.

Scientific Reports
Nikbakht, Hamid H; Jessa, Selin S; Sukhai, Mahadeo A MA; Arseneault, Madeleine M; Zhang, Tong T; Letourneau, Louis L; Thomas, Mariam M; Bourgey, Mathieu M; Roehrl, Michael H A MHA; Eveleigh, Robert R; Chen, Eric X EX; Krzyzanowska, Monika M; Moore, Malcolm J MJ; Giesler, Amanda A; Yu, Celeste C; Bedard, Philippe L PL; Kamel-Reid, Suzanne S; Majewski, Jacek J; Siu, Lillian L LL; Riazalhosseini, Yasser Y; Graham, Donna M DM
Publication Date: 2020-01-17

Variant appearance in text: MEFV: Q146*
PubMed Link: 31953485
Variant Present in the following documents:
  • 41598_2020_57476_MOESM5_ESM.xlsx, sheet 1
  • 41598_2020_57476_MOESM5_ESM.xlsx, sheet 4
View BVdb publication page



Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Frontiers In Immunology
Martorana, Davide D; Bonatti, Francesco F; Mozzoni, Paola P; Vaglio, Augusto A; Percesepe, Antonio A
Publication Date: 2017

Variant appearance in text: MEFV: Gln146Ter
PubMed Link: 28421071
Variant Present in the following documents:
  • Main text
  • fimmu-08-00344.pdf
View BVdb publication page