ACVRL1 c.955G>C ;(p.G319R)

Variant ID: 12-52309191-G-C

NM_000020.2(ACVRL1):c.955G>C;(p.G319R)

This variant was identified in 4 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: 955G>C; Gly319Arg
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Clinical characteristics and prognosis analysis of idiopathic and hereditary pulmonary hypertension patients with ACVRL1 gene mutations.

Pulmonary Circulation
Zhang, Xinyu X; Zhang, Chen C; Li, Qiangqiang Q; Piao, Chunmei C; Zhang, Hongsheng H; Gu, Hong H
Publication Date: 2021

Variant appearance in text: ACVRL1: 955G>C
PubMed Link: 34966542
Variant Present in the following documents:
  • Main text
  • 10.1177_20458940211044577.pdf
View BVdb publication page



Association of the gene polymorphisms of BMPR2, ACVRL1, SMAD9 and their interactions with the risk of essential hypertension in the Chinese Han population.

Bioscience Reports
Chen, Yunpeng Y; Ye, Chenxi C; Chen, Jingwen J; Lin, Dongming D; Wang, Hao H; Wang, Shen S
Publication Date: 2019-01-31

Variant appearance in text: ACVRL1: 955G>C; G319R
PubMed Link: 30617053
Variant Present in the following documents:
  • Main text
  • bsr-39-bsr20181217.pdf
View BVdb publication page



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: 955G>C
PubMed Link: 26387786
Variant Present in the following documents:
  • Main text
View BVdb publication page