MTHFD2 c.*1062T>G

Variant ID: 2-74442431-T-G

NM_006636.3(MTHFD2):c.*1062T>G

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs828853
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



The Genetic Architecture of the Etiology of Lower Extremity Peripheral Artery Disease: Current Knowledge and Future Challenges in the Era of Genomic Medicine.

International Journal Of Molecular Sciences
Butnariu, Lăcrămioara Ionela LI; Gorduza, Eusebiu Vlad EV; Florea, Laura L; Țarcă, Elena E; Moisă, Ștefana Maria ȘM; Tradafir, Laura Mihaela LM; Cojocaru, Elena E; Luca, Alina-Costina AC; Stătescu, Laura L; Bădescu, Minerva Codruța MC
Publication Date: 2022-09-09

Variant appearance in text: rs828853
PubMed Link: 36142394
Variant Present in the following documents:
  • Main text
  • ijms-23-10481.pdf
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs828853
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Functional identification of the promoter of SLC4A5, a gene associated with cardiovascular and metabolic phenotypes in the HERITAGE Family Study.

European Journal Of Human Genetics : Ejhg
Stütz, Adrian M AM; Teran-Garcia, Margarita M; Rao, D C DC; Rice, Treva T; Bouchard, Claude C; Rankinen, Tuomo T
Publication Date: 2009-11

Variant appearance in text: rs828853
PubMed Link: 19384345
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigating the complex genetic architecture of ankle-brachial index, a measure of peripheral arterial disease, in non-Hispanic whites.

Bmc Medical Genomics
Kardia, Sharon Lr SL; Greene, M Todd MT; Boerwinkle, Eric E; Turner, Stephen T ST; Kullo, Iftikhar J IJ
Publication Date: 2008-05-15

Variant appearance in text: rs828853
PubMed Link: 18482449
Variant Present in the following documents:
  • Main text
  • 1755-8794-1-16.pdf
View BVdb publication page