ACVRL1 c.145G>C ;(p.A49P)

Variant ID: 12-52306966-G-C

NM_000020.2(ACVRL1):c.145G>C;(p.A49P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Specificity and structure of a high affinity activin receptor-like kinase 1 (ALK1) signaling complex.

The Journal Of Biological Chemistry
Townson, Sharon A SA; Martinez-Hackert, Erik E; Greppi, Chloe C; Lowden, Patricia P; Sako, Dianne D; Liu, June J; Ucran, Jeffrey A JA; Liharska, Katia K; Underwood, Kathryn W KW; Seehra, Jasbir J; Kumar, Ravindra R; Grinberg, Asya V AV
Publication Date: 2012-08-10

Variant appearance in text: HHT2: A49P
PubMed Link: 22718755
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: HHT: A49P
PubMed Link: 15879500
Variant Present in the following documents:
  • Main text
View BVdb publication page