ENG c.1146C>G ;(p.C382W)

Variant ID: 9-130582305-G-C

NM_001114753.2(ENG):c.1146C>G;(p.C382W)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Structural Basis of the Human Endoglin-BMP9 Interaction: Insights into BMP Signaling and HHT1.

Cell Reports
Saito, Takako T; Bokhove, Marcel M; Croci, Romina R; Zamora-Caballero, Sara S; Han, Ling L; Letarte, Michelle M; de Sanctis, Daniele D; Jovine, Luca L
Publication Date: 2017-05-30

Variant appearance in text: ENG: C382W
PubMed Link: 28564608
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
View BVdb publication page



Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia.

Plos One
Ali, Bassam R BR; Ben-Rebeh, Imen I; John, Anne A; Akawi, Nadia A NA; Milhem, Reham M RM; Al-Shehhi, Nouf A NA; Al-Ameri, Mouza M MM; Al-Shamisi, Shamma A SA; Al-Gazali, Lihadh L
Publication Date: 2011

Variant appearance in text: ENG: C382W
PubMed Link: 22022569
Variant Present in the following documents:
  • Main text
  • pone.0026206.pdf
View BVdb publication page



Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.

Journal Of Medical Genetics
Prigoda, N L NL; Savas, S S; Abdalla, S A SA; Piovesan, B B; Rushlow, D D; Vandezande, K K; Zhang, E E; Ozcelik, H H; Gallie, B L BL; Letarte, M M
Publication Date: 2006-09

Variant appearance in text: ENG: C382W
PubMed Link: 16690726
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Journal Of Medical Genetics
Abdalla, S A SA; Letarte, M M
Publication Date: 2006-02

Variant appearance in text:
PubMed Link: 15879500
Variant Present in the following documents:
  • Main text
View BVdb publication page