MTHFR c.100A>G ;(p.T34A)

Variant ID: 1-11863074-T-C

NM_005957.4(MTHFR):c.100A>G;(p.T34A)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Regulation of folate and methionine metabolism by multisite phosphorylation of human methylenetetrahydrofolate reductase.

Scientific Reports
Zheng, Yuxiang Y; Ramsamooj, Shivan S; Li, Qian Q; Johnson, Jared L JL; Yaron, Tomer M TM; Sharra, Klaus K; Cantley, Lewis C LC
Publication Date: 2019-03-12

Variant appearance in text: MTHFR: T34A
PubMed Link: 30862944
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_40950.pdf
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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: Thr34Ala
PubMed Link: 29891918
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_4735.pdf
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Polo-like kinase 1 (PLK1)-dependent phosphorylation of methylenetetrahydrofolate reductase (MTHFR) regulates replication via histone methylation.

Cell Cycle (Georgetown, Tex.)
Li, Xueyan X; Nai, Shanshan S; Ding, Yuehe Y; Geng, Qizhi Q; Zhu, Bingtao B; Yu, Kai K; Zhu, Wei-Guo WG; Dong, Meng-Qiu MQ; Su, Xiao-Dong XD; Xu, Xingzhi X; Li, Jing J
Publication Date: 2017-10-18

Variant appearance in text: MTHFR: T34A
PubMed Link: 28820331
Variant Present in the following documents:
  • Main text
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The prevalence of folate-remedial MTHFR enzyme variants in humans.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Marini, Nicholas J NJ; Gin, Jennifer J; Ziegle, Janet J; Keho, Kathryn Hunkapiller KH; Ginzinger, David D; Gilbert, Dennis A DA; Rine, Jasper J
Publication Date: 2008-06-10

Variant appearance in text: MTHFR: T34A
PubMed Link: 18523009
Variant Present in the following documents:
  • Main text
View BVdb publication page



Regulation of human methylenetetrahydrofolate reductase by phosphorylation.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Yamada, Kazuhiro K; Strahler, John R JR; Andrews, Philip C PC; Matthews, Rowena G RG
Publication Date: 2005-07-26

Variant appearance in text: MTHFR: Thr34Ala
PubMed Link: 16024724
Variant Present in the following documents:
  • Main text
View BVdb publication page