GDF2 c.662A>G ;(p.K221R)

Variant ID: 10-48414206-T-C

NM_016204.1(GDF2):c.662A>G;(p.K221R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


EPDR1 is a noncanonical effector of insulin-mediated angiogenesis regulated by an endothelial-specific TGF-β receptor complex.

The Journal Of Biological Chemistry
Ahmed, Tasmia T; Flores, Paola Cruz PC; Pan, Christopher C CC; Ortiz, Hannah R HR; Lee, Yeon S YS; Langlais, Paul R PR; Mythreye, Karthikeyan K; Lee, Nam Y NY
Publication Date: 2022-09

Variant appearance in text: BMP9: K221R
PubMed Link: 35872017
Variant Present in the following documents:
  • Main text
View BVdb publication page



ALK1 regulates the internalization of endoglin and the type III TGF-β receptor.

Molecular Biology Of The Cell
Tazat, Keren K; Pomeraniec-Abudy, Leslie L; Hector-Greene, Melissa M; Szilágyi, Szabina Szófia SS; Sharma, Swati S; Cai, Elise M EM; Corona, Armando L AL; Ehrlich, Marcelo M; Blobe, Gerard C GC; Henis, Yoav I YI
Publication Date: 2021-04-01

Variant appearance in text: BMP9: K221R
PubMed Link: 33566682
Variant Present in the following documents:
  • Main text
  • mbc-32-605.pdf
View BVdb publication page