ENG c.932T>G ;(p.V311G)

Variant ID: 9-130587138-A-C

NM_001114753.2(ENG):c.932T>G;(p.V311G)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Endoglin Wild Type and Variants Associated With Hereditary Hemorrhagic Telangiectasia Type 1 Undergo Distinct Cellular Degradation Pathways.

Frontiers In Molecular Biosciences
Gariballa, Nesrin N; Kizhakkedath, Praseetha P; Akawi, Nadia N; John, Anne A; Ali, Bassam R BR
Publication Date: 2022

Variant appearance in text: ENG: V311G
PubMed Link: 35281255
Variant Present in the following documents:
  • Main text
  • fmolb-09-828199.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: V311G
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: V311G
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