SI c.672C>A ;(p.D224E)

Variant ID: 3-164783184-G-T

NM_001041.3(SI):c.672C>A;(p.D224E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.

Nature Genetics
Guimier, Anne A; Gabriel, George C GC; Bajolle, Fanny F; Tsang, Michael M; Liu, Hui H; Noll, Aaron A; Schwartz, Molly M; El Malti, Rajae R; Smith, Laurie D LD; Klena, Nikolai T NT; Jimenez, Gina G; Miller, Neil A NA; Oufadem, Myriam M; Moreau de Bellaing, Anne A; Yagi, Hisato H; Saunders, Carol J CJ; Baker, Candice N CN; Di Filippo, Sylvie S; Peterson, Kevin A KA; Thiffault, Isabelle I; Bole-Feysot, Christine C; Cooley, Linda D LD; Farrow, Emily G EG; Masson, Cécile C; Schoen, Patric P; Deleuze, Jean-François JF; Nitschké, Patrick P; Lyonnet, Stanislas S; de Pontual, Loic L; Murray, Stephen A SA; Bonnet, Damien D; Kingsmore, Stephen F SF; Amiel, Jeanne J; Bouvagnet, Patrice P; Lo, Cecilia W CW; Gordon, Christopher T CT
Publication Date: 2015-11

Variant appearance in text: SI: D224E
PubMed Link: 26437028
Variant Present in the following documents:
  • NIHMS707556-supplement-2.pdf
View BVdb publication page



Mitochondrial pathway of apoptosis is ancestral in metazoans.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Bender, Cheryl E CE; Fitzgerald, Patrick P; Tait, Stephen W G SW; Llambi, Fabien F; McStay, Gavin P GP; Tupper, Douglas O DO; Pellettieri, Jason J; Sánchez Alvarado, Alejandro A; Salvesen, Guy S GS; Green, Douglas R DR
Publication Date: 2012-03-27

Variant appearance in text: SI: D224E
PubMed Link: 22416118
Variant Present in the following documents:
  • Main text
View BVdb publication page