GDF2 c.950G>A ;(p.R317Q)

Variant ID: 10-48413918-C-T

NM_016204.1(GDF2):c.950G>A;(p.R317Q)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Detection of early seeding of Richter transformation in chronic lymphocytic leukemia.

Nature Medicine
Nadeu, Ferran F; Royo, Romina R; Massoni-Badosa, Ramon R; Playa-Albinyana, Heribert H; Garcia-Torre, Beatriz B; Duran-Ferrer, Martí M; Dawson, Kevin J KJ; Kulis, Marta M; Diaz-Navarro, Ander A; Villamor, Neus N; Melero, Juan L JL; Chapaprieta, Vicente V; Dueso-Barroso, Ana A; Delgado, Julio J; Moia, Riccardo R; Ruiz-Gil, Sara S; Marchese, Domenica D; Giró, Ariadna A; Verdaguer-Dot, Núria N; Romo, Mónica M; Clot, Guillem G; Rozman, Maria M; Frigola, Gerard G; Rivas-Delgado, Alfredo A; Baumann, Tycho T; Alcoceba, Miguel M; González, Marcos M; Climent, Fina F; Abrisqueta, Pau P; Castellví, Josep J; Bosch, Francesc F; Aymerich, Marta M; Enjuanes, Anna A; Ruiz-Gaspà, Sílvia S; López-Guillermo, Armando A; Jares, Pedro P; Beà, Sílvia S; Capella-Gutierrez, Salvador S; Gelpí, Josep Ll JL; López-Bigas, Núria N; Torrents, David D; Campbell, Peter J PJ; Gut, Ivo I; Rossi, Davide D; Gaidano, Gianluca G; Puente, Xose S XS; Garcia-Roves, Pablo M PM; Colomer, Dolors D; Heyn, Holger H; Maura, Francesco F; Martín-Subero, José I JI; Campo, Elías E
Publication Date: 2022-08

Variant appearance in text: GDF2: 950G>A; Arg317Gln
PubMed Link: 35953718
Variant Present in the following documents:
  • 41591_2022_1927_MOESM3_ESM.xlsx, sheet 21
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs201507315
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs201507315
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



A heterodimer formed by bone morphogenetic protein 9 (BMP9) and BMP10 provides most BMP biological activity in plasma.

The Journal Of Biological Chemistry
Tillet, Emmanuelle E; Ouarné, Marie M; Desroches-Castan, Agnès A; Mallet, Christine C; Subileau, Mariela M; Didier, Robin R; Lioutsko, Anna A; Belthier, Guillaume G; Feige, Jean-Jacques JJ; Bailly, Sabine S
Publication Date: 2018-07-13

Variant appearance in text: BMP9: R317Q
PubMed Link: 29789425
Variant Present in the following documents:
  • Main text
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: GDF2: 950G>A; R317Q
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.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: GDF2: 950G>A; R317Q
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: GDF2: R317Q
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia.

Human Genome Variation
Hernandez, Felicia F; Huether, Robert R; Carter, Lester L; Johnston, Tami T; Thompson, Jennifer J; Gossage, James R JR; Chao, Elizabeth E; Elliott, Aaron M AM
Publication Date: 2015

Variant appearance in text: GDF2: R317Q
PubMed Link: 27081547
Variant Present in the following documents:
  • Main text
  • hgv201540.pdf
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: GDF2: R317Q
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Plos Computational Biology
Chen, Yun-Ching YC; Douville, Christopher C; Wang, Cheng C; Niknafs, Noushin N; Yeo, Grace G; Beleva-Guthrie, Violeta V; Carter, Hannah H; Stenson, Peter D PD; Cooper, David N DN; Li, Biao B; Mooney, Sean S; Karchin, Rachel R
Publication Date: 2014-09

Variant appearance in text: GDF2: R317Q
PubMed Link: 25188385
Variant Present in the following documents:
  • pcbi.1003825.s014.xlsx, sheet 1
View BVdb publication page