ACVRL1 c.1436G>C ;(p.R479P)

Variant ID: 12-52314601-G-C

NM_000020.2(ACVRL1):c.1436G>C;(p.R479P)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: ACVRL1: 1436G>C; Arg479Pro
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry.

Orphanet Journal Of Rare Diseases
Sánchez-Martínez, Rosario R; Iriarte, Adriana A; Mora-Luján, José María JM; Patier, José Luis JL; López-Wolf, Daniel D; Ojeda, Ana A; Torralba, Miguel Angel MA; Juyol, María Coloma MC; Gil, Ricardo R; Añón, Sol S; Salazar-Mendiguchía, Joel J; Riera-Mestre, Antoni A; ,
Publication Date: 2020-06-05

Variant appearance in text: ACVRL1: 1436G>C; Arg479Pro
PubMed Link: 32503579
Variant Present in the following documents:
View BVdb publication page



PI3K (Phosphatidylinositol 3-Kinase) Activation and Endothelial Cell Proliferation in Patients with Hemorrhagic Hereditary Telangiectasia Type 1.

Cells
Iriarte, Adriana A; Figueras, Agnes A; Cerdà, Pau P; Mora, José María JM; Jucglà, Anna A; Penín, Rosa R; Viñals, Francesc F; Riera-Mestre, Antoni A
Publication Date: 2019-08-24

Variant appearance in text: ACVRL1: 1436G>C
PubMed Link: 31450639
Variant Present in the following documents:
  • Main text
  • cells-08-00971.pdf
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Variant analysis in Chinese families with hereditary hemorrhagic telangiectasia.

Molecular Genetics & Genomic Medicine
Zhao, Yali Y; Zhang, Yuan Y; Wang, Xiangdong X; Zhang, Luo L
Publication Date: 2019-09

Variant appearance in text: ACVRL1: 1436G>C
PubMed Link: 31400083
Variant Present in the following documents:
  • Main text
  • MGG3-7-e893.pdf
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Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Human Mutation
Machado, Rajiv D RD; Southgate, Laura L; Eichstaedt, Christina A CA; Aldred, Micheala A MA; Austin, Eric D ED; Best, D Hunter DH; Chung, Wendy K WK; Benjamin, Nicola N; Elliott, C Gregory CG; Eyries, Mélanie M; Fischer, Christine C; Gräf, Stefan S; Hinderhofer, Katrin K; Humbert, Marc M; Keiles, Steven B SB; Loyd, James E JE; Morrell, Nicholas W NW; Newman, John H JH; Soubrier, Florent F; Trembath, Richard C RC; Viales, Rebecca Rodríguez RR; Grünig, Ekkehard E
Publication Date: 2015-12

Variant appearance in text: ACVRL1: R479P
PubMed Link: 26387786
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics and genomics of pulmonary arterial hypertension.

Journal Of The American College Of Cardiology
Machado, Rajiv D RD; Eickelberg, Oliver O; Elliott, C Gregory CG; Geraci, Mark W MW; Hanaoka, Masayuki M; Loyd, James E JE; Newman, John H JH; Phillips, John A JA; Soubrier, Florent F; Trembath, Richard C RC; Chung, Wendy K WK
Publication Date: 2009-06-30

Variant appearance in text: HHT: 1436G>C
PubMed Link: 19555857
Variant Present in the following documents:
  • Main text
View BVdb publication page