MTHFR c.1142G>A ;(p.W381*)

Variant ID: 1-11854810-C-T

NM_005957.4(MTHFR):c.1142G>A;(p.W381*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clonal Evolution and Heterogeneity of Osimertinib Acquired Resistance Mechanisms in EGFR Mutant Lung Cancer.

Cell Reports. Medicine
Roper, Nitin N; Brown, Anna-Leigh AL; Wei, Jun S JS; Pack, Svetlana S; Trindade, Christopher C; Kim, Chul C; Restifo, Olivia O; Gao, Shaojian S; Sindiri, Sivasish S; Mehrabadi, Farid F; El Meskini, Rajaa R; Ohler, Zoe Weaver ZW; Maity, Tapan K TK; Venugopalan, Abhilash A; Cultraro, Constance M CM; Akoth, Elizabeth E; Padiernos, Emerson E; Chen, Haobin H; Kesarwala, Aparna A; Smart, DeeDee K DK; Nilubol, Naris N; Rajan, Arun A; Piotrowska, Zofia Z; Xi, Liqiang L; Raffeld, Mark M; Panchenko, Anna R AR; Sahinalp, Cenk C; Hewitt, Stephen S; Hoang, Chuong D CD; Khan, Javed J; Guha, Udayan U
Publication Date: 2020-04-21

Variant appearance in text: MTHFR: W381X
PubMed Link: 32483558
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.

Journal Of Inherited Metabolic Disease
Huemer, Martina M; Mulder-Bleile, Regina R; Burda, Patricie P; Froese, D Sean DS; Suormala, Terttu T; Zeev, Bruria Ben BB; Chinnery, Patrick F PF; Dionisi-Vici, Carlo C; Dobbelaere, Dries D; Gökcay, Gülden G; Demirkol, Mübeccel M; Häberle, Johannes J; Lossos, Alexander A; Mengel, Eugen E; Morris, Andrew A AA; Niezen-Koning, Klary E KE; Plecko, Barbara B; Parini, Rossella R; Rokicki, Dariusz D; Schiff, Manuel M; Schimmel, Mareike M; Sewell, Adrian C AC; Sperl, Wolfgang W; Spiekerkoetter, Ute U; Steinmann, Beat B; Taddeucci, Grazia G; Trejo-Gabriel-Galán, Jose M JM; Trefz, Friedrich F; Tsuji, Megumi M; Vilaseca, María Antònia MA; von Kleist-Retzow, Jürgen-Christoph JC; Walker, Valerie V; Zeman, Jiri J; Baumgartner, Matthias R MR; Fowler, Brian B
Publication Date: 2016-01

Variant appearance in text: MTHFR: 1142G>A
PubMed Link: 26025547
Variant Present in the following documents:
  • Main text
View BVdb publication page