GDF2 c.871G>A ;(p.G291S)

Variant ID: 10-48413997-C-T

NM_016204.1(GDF2):c.871G>A;(p.G291S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an "HHT-like" syndrome in children.

Molecular Genetics & Genomic Medicine
Hodgson, Joshua J; Ruiz-Llorente, Lidia L; McDonald, Jamie J; Quarrell, Oliver O; Ugonna, Kelechi K; Bentham, James J; Mason, Rebecca R; Martin, Jennifer J; Moore, David D; Bergstrom, Katie K; Bayrak-Toydemir, Pinar P; Wooderchak-Donahue, Whitney W; Morrell, Nicholas W NW; Condliffe, Robin R; Bernabeu, Carmelo C; Upton, Paul D PD
Publication Date: 2021-12

Variant appearance in text: BMP9: Gly291Ser
PubMed Link: 33834622
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1685.pdf
View BVdb publication page



Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an "HHT-like" syndrome in children.

Molecular Genetics & Genomic Medicine
Hodgson, Joshua J; Ruiz-Llorente, Lidia L; McDonald, Jamie J; Quarrell, Oliver O; Ugonna, Kelechi K; Bentham, James J; Mason, Rebecca R; Martin, Jennifer J; Moore, David D; Bergstrom, Katie K; Bayrak-Toydemir, Pinar P; Wooderchak-Donahue, Whitney W; Morrell, Nicholas W NW; Condliffe, Robin R; Bernabeu, Carmelo C; Upton, Paul D PD
Publication Date: 2021-04-09

Variant appearance in text: BMP9: Gly291Ser
PubMed Link: 33834622
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1685.pdf
View BVdb publication page



NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene
Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S
Publication Date: 2020-04

Variant appearance in text: rs201711410
PubMed Link: 32055024
Variant Present in the following documents:
  • 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension.

American Journal Of Respiratory And Critical Care Medicine
Hodgson, Joshua J; Swietlik, Emilia M EM; Salmon, Richard M RM; Hadinnapola, Charaka C; Nikolic, Ivana I; Wharton, John J; Guo, Jingxu J; Liley, James J; Haimel, Matthias M; Bleda, Marta M; Southgate, Laura L; Machado, Rajiv D RD; Martin, Jennifer M JM; Treacy, Carmen M CM; Yates, Katherine K; Daugherty, Louise C LC; Shamardina, Olga O; Whitehorn, Deborah D; Holden, Simon S; Bogaard, Harm J HJ; Church, Colin C; Coghlan, Gerry G; Condliffe, Robin R; Corris, Paul A PA; Danesino, Cesare C; Eyries, Mélanie M; Gall, Henning H; Ghio, Stefano S; Ghofrani, Hossein-Ardeschir HA; Gibbs, J Simon R JSR; Girerd, Barbara B; Houweling, Arjan C AC; Howard, Luke L; Humbert, Marc M; Kiely, David G DG; Kovacs, Gabor G; Lawrie, Allan A; MacKenzie Ross, Robert V RV; Moledina, Shahin S; Montani, David D; Olschewski, Andrea A; Olschewski, Horst H; Ouwehand, Willem H WH; Peacock, Andrew J AJ; Pepke-Zaba, Joanna J; Prokopenko, Inga I; Rhodes, Christopher J CJ; Scelsi, Laura L; Seeger, Werner W; Soubrier, Florent F; Suntharalingam, Jay J; Toshner, Mark R MR; Trembath, Richard C RC; Vonk Noordegraaf, Anton A; Wort, Stephen J SJ; Wilkins, Martin R MR; Yu, Paul B PB; Li, Wei W; Gräf, Stefan S; Upton, Paul D PD; Morrell, Nicholas W NW
Publication Date: 2020-03-01

Variant appearance in text: BMP9: G291S
PubMed Link: 31661308
Variant Present in the following documents:
  • Main text
View BVdb publication page