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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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
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: Thr34Ala
PubMed Link:
29891918
Variant Present in the following documents:
Main text
41467_2018_Article_4735.pdf
View BVdb publication page
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
View BVdb publication page
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