MTHFR c.476-86G>C

Variant ID: 1-11860465-C-G

NM_005957.4(MTHFR):c.476-86G>C

This variant was identified in 6 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: rs13306567
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: MTHFR: 476-86G>C; rs13306567
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
View BVdb publication page



The Roles of MTRR and MTHFR Gene Polymorphisms in Colorectal Cancer Survival.

Nutrients
Wang, Yu Y; Du, Meizhi M; Vallis, Jillian J; Shariati, Matin M; Parfrey, Patrick S PS; Mclaughlin, John R JR; Wang, Peizhong Peter PP; Zhu, Yun Y
Publication Date: 2022-11-01

Variant appearance in text: rs13306567
PubMed Link: 36364857
Variant Present in the following documents:
  • nutrients-14-04594.pdf
View BVdb publication page



The 677C→T variant of MTHFR is the major genetic modifier of biomarkers of folate status in a young, healthy Irish population.

The American Journal Of Clinical Nutrition
Shane, Barry B; Pangilinan, Faith F; Mills, James L JL; Fan, Ruzong R; Gong, Tingting T; Cropp, Cheryl D CD; Kim, Yoonhee Y; Ueland, Per M PM; Bailey-Wilson, Joan E JE; Wilson, Alexander F AF; Brody, Lawrence C LC; Molloy, Anne M AM
Publication Date: 2018-12-01

Variant appearance in text: rs13306567
PubMed Link: 30339177
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis.

Plos One
Marini, Nicholas J NJ; Hoffmann, Thomas J TJ; Lammer, Edward J EJ; Hardin, Jill J; Lazaruk, Katherine K; Stein, Jason B JB; Gilbert, Dennis A DA; Wright, Crystal C; Lipzen, Anna A; Pennacchio, Len A LA; Carmichael, Suzan L SL; Witte, John S JS; Shaw, Gary M GM; Rine, Jasper J
Publication Date: 2011

Variant appearance in text: rs13306567
PubMed Link: 22140583
Variant Present in the following documents:
  • pone.0028408.s004.xls, sheet 1
View BVdb publication page



Genetic architecture of ambulatory blood pressure in the general population: insights from cardiovascular gene-centric array.

Hypertension (Dallas, Tex. : 1979)
Tomaszewski, Maciej M; Debiec, Radoslaw R; Braund, Peter S PS; Nelson, Christopher P CP; Hardwick, Robert R; Christofidou, Paraskevi P; Denniff, Matthew M; Codd, Veryan V; Rafelt, Suzanne S; van der Harst, Pim P; Waterworth, Dawn D; Song, Kijoung K; Vollenweider, Peter P; Waeber, Gerard G; Zukowska-Szczechowska, Ewa E; Burton, Paul R PR; Mooser, Vincent V; Charchar, Fadi J FJ; Thompson, John R JR; Tobin, Martin D MD; Samani, Nilesh J NJ
Publication Date: 2010-12

Variant appearance in text: rs13306567
PubMed Link: 21060006
Variant Present in the following documents:
  • Main text
View BVdb publication page