MTHFR c.400C>T ;(p.R134C)

Variant ID: 1-11861293-G-A

NM_005957.4(MTHFR):c.400C>T;(p.R134C)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: MTHFR: 400C>T; Arg134Cys
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_4.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: MTHFR: 400C>T; R134C
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele.

Birth Defects Research. Part A, Clinical And Molecular Teratology
Aneji, Chiamaka N CN; Northrup, Hope H; Au, Kit Sing KS
Publication Date: 2012-02

Variant appearance in text: MTHFR: Arg134Cys
PubMed Link: 22241680
Variant Present in the following documents:
  • Main text
View BVdb publication page



The use of orthologous sequences to predict the impact of amino acid substitutions on protein function.

Plos Genetics
Marini, Nicholas J NJ; Thomas, Paul D PD; Rine, Jasper J
Publication Date: 2010-05-27

Variant appearance in text: MTHFR: R134C
PubMed Link: 20523748
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy.

Molecular Vision
Hudson, Gavin G; Yu-Wai-Man, Patrick P; Zeviani, Massimo M; Chinnery, Patrick F PF
Publication Date: 2009

Variant appearance in text: rs45550133
PubMed Link: 19421414
Variant Present in the following documents:
  • Main text
  • mv-v15-870.pdf
View BVdb publication page