MTHFR c.1389G>T ;(p.E463D)

Variant ID: 1-11854105-C-A

NM_005957.4(MTHFR):c.1389G>T;(p.E463D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Shifting landscapes of human MTHFR missense-variant effects.

American Journal Of Human Genetics
Weile, Jochen J; Kishore, Nishka N; Sun, Song S; Maaieh, Ranim R; Verby, Marta M; Li, Roujia R; Fotiadou, Iosifina I; Kitaygorodsky, Julia J; Wu, Yingzhou Y; Holenstein, Alexander A; Bürer, Céline C; Blomgren, Linnea L; Yang, Shan S; Nussbaum, Robert R; Rozen, Rima R; Watkins, David D; Gebbia, Marinella M; Kozich, Viktor V; Garton, Michael M; Froese, D Sean DS; Roth, Frederick P FP
Publication Date: 2021-07-01

Variant appearance in text: MTHFR: E463D
PubMed Link: 34214447
Variant Present in the following documents:
  • mmc1.pdf
  • mmc6.pdf
View BVdb publication page



Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition.

Nature Communications
Froese, D Sean DS; Kopec, Jolanta J; Rembeza, Elzbieta E; Bezerra, Gustavo Arruda GA; Oberholzer, Anselm Erich AE; Suormala, Terttu T; Lutz, Seraina S; Chalk, Rod R; Borkowska, Oktawia O; Baumgartner, Matthias R MR; Yue, Wyatt W WW
Publication Date: 2018-06-11

Variant appearance in text: MTHFR: E463D
PubMed Link: 29891918
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_4735.pdf
View BVdb publication page