IGF2 c.*3773A>C

Variant ID: 11-2150444-T-G

NM_000612.4(IGF2):c.*3773A>C

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Polygenic scores for estimated glomerular filtration rate in a population of general adults and elderly - comparative results from the KORA and AugUR study.

Bmc Genomic Data
Herold, Janina M JM; Nano, Jana J; Gorski, Mathias M; Winkler, Thomas W TW; Stanzick, Kira J KJ; Zimmermann, Martina E ME; Brandl, Caroline C; Peters, Annette A; Koenig, Wolfgang W; Burkhardt, Ralph R; Gessner, André A; Heid, Iris M IM; Gieger, Christian C; Stark, Klaus J KJ
Publication Date: 2023-05-25

Variant appearance in text: rs2585
PubMed Link: 37231333
Variant Present in the following documents:
  • 12863_2023_1130_MOESM1_ESM.pdf
View BVdb publication page



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: rs2585
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: rs2585
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: rs2585
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



The influence of maternal pregnancy glucose concentrations on associations between a fetal imprinted gene allele score and offspring size at birth.

Bmc Research Notes
Petry, Clive J CJ; Ong, Ken K KK; Hughes, Ieuan A IA; Acerini, Carlo L CL; Dunger, David B DB
Publication Date: 2018-11-19

Variant appearance in text: rs2585
PubMed Link: 30454065
Variant Present in the following documents:
  • Main text
  • 13104_2018_Article_3933.pdf
View BVdb publication page



A comprehensive overview of genomic imprinting in breast and its deregulation in cancer.

Nature Communications
Goovaerts, Tine T; Steyaert, Sandra S; Vandenbussche, Chari A CA; Galle, Jeroen J; Thas, Olivier O; Van Criekinge, Wim W; De Meyer, Tim T
Publication Date: 2018-10-08

Variant appearance in text: rs2585
PubMed Link: 30297886
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impacts of bisphenol A (BPA) and phthalate exposures on epigenetic outcomes in the human placenta.

Environmental Epigenetics
Strakovsky, Rita S RS; Schantz, Susan L SL
Publication Date: 2018-07

Variant appearance in text: rs2585
PubMed Link: 30210810
Variant Present in the following documents:
  • Main text
View BVdb publication page



Associations between the maternal circulating lipid profile in pregnancy and fetal imprinted gene alleles: a cohort study.

Reproductive Biology And Endocrinology : Rb&E
Petry, Clive J CJ; Koulman, Albert A; Lu, Liangjian L; Jenkins, Benjamin B; Furse, Samuel S; Prentice, Philippa P; Matthews, Lee L; Hughes, Ieuan A IA; Acerini, Carlo L CL; Ong, Ken K KK; Dunger, David B DB
Publication Date: 2018-08-29

Variant appearance in text: rs2585
PubMed Link: 30157874
Variant Present in the following documents:
  • Main text
  • 12958_2018_Article_399.pdf
View BVdb publication page



Genome-wide association study of lncRNA polymorphisms with bone mineral density.

Annals Of Human Genetics
Zeng, Qin Q; Wu, Ke-Hao KH; Liu, Kun K; Hu, Yuan Y; Chen, Xiang-Ding XD; Zhang, Lei L; Shen, Hui H; Tian, Qin Q; Zhao, Lan-Juan LJ; Deng, Hong-Wen HW; Tan, Li-Jun LJ
Publication Date: 2018-09

Variant appearance in text: rs2585
PubMed Link: 29663307
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs2585
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Impact of folic acid intake during pregnancy on genomic imprinting of IGF2/H19 and 1-carbon metabolism.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
Tserga, Aggeliki A; Binder, Alexandra M AM; Michels, Karin B KB
Publication Date: 2017-12

Variant appearance in text: rs2585
PubMed Link: 28778973
Variant Present in the following documents:
  • Main text
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: rs2585
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Associations between a fetal imprinted gene allele score and late pregnancy maternal glucose concentrations.

Diabetes & Metabolism
Petry, C J CJ; Mooslehner, K K; Prentice, P P; Hayes, M G MG; Nodzenski, M M; Scholtens, D M DM; Hughes, I A IA; Acerini, C L CL; Ong, K K KK; Lowe, W L WL; Dunger, D B DB
Publication Date: 2017-09

Variant appearance in text: rs2585
PubMed Link: 28392167
Variant Present in the following documents:
  • Main text
View BVdb publication page



The impact of first trimester phthalate and phenol exposure on IGF2/H19 genomic imprinting and birth outcomes.

Environmental Research
LaRocca, Jessica J; Binder, Alexandra M AM; McElrath, Thomas F TF; Michels, Karin B KB
Publication Date: 2014-08

Variant appearance in text: rs2585
PubMed Link: 24972507
Variant Present in the following documents:
  • Main text
View BVdb publication page



The prevalence of loss of imprinting of H19 and IGF2 at birth.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
Rancourt, Rebecca C RC; Harris, Holly R HR; Barault, Ludovic L; Michels, Karin B KB
Publication Date: 2013-08

Variant appearance in text: rs2585
PubMed Link: 23620526
Variant Present in the following documents:
  • Main text
View BVdb publication page



Fetal growth and body size genes and risk of childhood acute lymphoblastic leukemia.

Cancer Causes & Control : Ccc
Chokkalingam, Anand P AP; Metayer, Catherine C; Scelo, Ghislaine G; Chang, Jeffrey S JS; Schiffman, Joshua J; Urayama, Kevin Y KY; Ma, Xiaomei X; Hansen, Helen M HM; Feusner, James H JH; Barcellos, Lisa F LF; Wiencke, John K JK; Wiemels, Joseph L JL; Buffler, Patricia A PA
Publication Date: 2012-09

Variant appearance in text: rs2585
PubMed Link: 22878902
Variant Present in the following documents:
  • Main text
  • 10552_2012_Article_35.pdf
View BVdb publication page



Impact of the genome on the epigenome is manifested in DNA methylation patterns of imprinted regions in monozygotic and dizygotic twins.

Plos One
Coolen, Marcel W MW; Statham, Aaron L AL; Qu, Wenjia W; Campbell, Megan J MJ; Henders, Anjali K AK; Montgomery, Grant W GW; Martin, Nick G NG; Clark, Susan J SJ
Publication Date: 2011

Variant appearance in text: rs2585
PubMed Link: 21991322
Variant Present in the following documents:
  • Main text
  • pone.0025590.pdf
View BVdb publication page