MTHFR c.553G>C ;(p.E185Q)

Variant ID: 1-11860302-C-G

NM_005957.4(MTHFR):c.553G>C;(p.E185Q)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Molecular profiling of a real-world breast cancer cohort with genetically inferred ancestries reveals actionable tumor biology differences between European ancestry and African ancestry patient populations.

Breast Cancer Research : Bcr
Miyashita, Minoru M; Bell, Joshua S K JSK; Wenric, Stephane S; Karaesmen, Ezgi E; Rhead, Brooke B; Kase, Matthew M; Kaneva, Kristiyana K; De La Vega, Francisco M FM; Zheng, Yonglan Y; Yoshimatsu, Toshio F TF; Khramtsova, Galina G; Liu, Fang F; Zhao, Fangyuan F; Howard, Frederick M FM; Nanda, Rita R; Beaubier, Nike N; White, Kevin P KP; Huo, Dezheng D; Olopade, Olufunmilayo I OI
Publication Date: 2023-05-25

Variant appearance in text: MTHFR: 553G>C; E185Q
PubMed Link: 37231433
Variant Present in the following documents:
  • 13058_2023_1627_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Gene polymorphisms and risk of head and neck squamous cell carcinoma: a systematic review.

Reports Of Practical Oncology And Radiotherapy : Journal Of Greatpoland Cancer Center In Poznan And Polish Society Of Radiation Oncology
Rajabi-Moghaddam, Mahdieh M; Abbaszadeh, Hamid H
Publication Date: 2022

Variant appearance in text: MTHFR: Glu185Gln
PubMed Link: 36632298
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies.

Scientific Reports
Wang, Junjun J; Liu, Qingyun Q; Yuan, Shuai S; Xie, Weijia W; Liu, Yuan Y; Xiang, Ying Y; Wu, Na N; Wu, Long L; Ma, Xiangyu X; Cai, Tongjian T; Zhang, Yao Y; Sun, Zhifu Z; Li, Yafei Y
Publication Date: 2017-08-21

Variant appearance in text: MTHFR: Glu185Gln
PubMed Link: 28827732
Variant Present in the following documents:
  • 41598_2017_7737_MOESM1_ESM.pdf
View BVdb publication page



Genetic polymorphisms in homologous recombination repair genes in healthy Slovenian population and their influence on DNA damage.

Radiology And Oncology
Goricar, Katja K; Erculj, Nina N; Zadel, Maja M; Dolzan, Vita V
Publication Date: 2012-03

Variant appearance in text: MTHFR: E185Q
PubMed Link: 22933979
Variant Present in the following documents:
  • rado-46-01-46.pdf
View BVdb publication page



Polymorphisms in DNA repair and one-carbon metabolism genes and overall survival in diffuse large B-cell lymphoma and follicular lymphoma.

Leukemia
Wang, S S SS; Maurer, M J MJ; Morton, L M LM; Habermann, T M TM; Davis, S S; Cozen, W W; Lynch, C F CF; Severson, R K RK; Rothman, N N; Chanock, S J SJ; Hartge, P P; Cerhan, J R JR
Publication Date: 2009-03

Variant appearance in text: MTHFR: E185Q
PubMed Link: 18830263
Variant Present in the following documents:
  • nihms278004.pdf
View BVdb publication page



Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.

Mutation Research
Zhu, Yong Y; Hoffman, Aaron A; Wu, Xifeng X; Zhang, Heping H; Zhang, Yawei Y; Leaderer, Derek D; Zheng, Tongzhang T
Publication Date: 2008-03-01

Variant appearance in text: MTHFR: Glu185Gln
PubMed Link: 18191955
Variant Present in the following documents:
  • Main text
View BVdb publication page