BMP15 c.581T>C ;(p.F194S)

Variant ID: X-50659009-T-C

NM_005448.2(BMP15):c.581T>C;(p.F194S)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Novel bone morphogenetic protein 15 (BMP15) gene variants implicated in premature ovarian insufficiency.

Reproductive Biology And Endocrinology : Rb&E
Afkhami, Fatemeh F; Shahbazi, Shirin S; Farzadi, Laya L; Danaei, Shahla S
Publication Date: 2022-03-01

Variant appearance in text: BMP15: F194S; rs141218518
PubMed Link: 35232444
Variant Present in the following documents:
  • Main text
  • 12958_2022_Article_913.pdf
View BVdb publication page



SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: BMP15: F194S
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era.

Journal Of The Endocrine Society
França, Monica Malheiros MM; Mendonca, Berenice Bilharinho BB
Publication Date: 2020-02-01

Variant appearance in text: BMP15: 581T>C; Phe194Ser
PubMed Link: 32099950
Variant Present in the following documents:
  • Main text
  • bvz037.pdf
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: BMP15: F194S
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 40
View BVdb publication page



Molecular Aspects and Clinical Relevance of GDF9 and BMP15 in Ovarian Function.

Vitamins And Hormones
Belli, Martina M; Shimasaki, Shunichi S
Publication Date: 2018

Variant appearance in text: BMP15: F194S
PubMed Link: 29544636
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variation in bone morphogenetic protein 15 is not associated with spontaneous human dizygotic twinning.

Human Reproduction (Oxford, England)
Zhao, Zhen Zhen ZZ; Painter, Jodie N JN; Palmer, James S JS; Webb, Penelope M PM; Hayward, Nicholas K NK; Whiteman, David C DC; Boomsma, Dorret I DI; Martin, Nicholas G NG; Duffy, David L DL; Montgomery, Grant W GW
Publication Date: 2008-10

Variant appearance in text: BMP15: 581T>C; Phe194Ser
PubMed Link: 18614612
Variant Present in the following documents:
  • Main text
View BVdb publication page