ACVRL1 c.1232G>A ;(p.R411Q)

Variant ID: 12-52310003-G-A

NM_000020.2(ACVRL1):c.1232G>A;(p.R411Q)

This variant was identified in 33 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: ACVRL1: 1232G>A; R411Q; rs121909284
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 9
View BVdb publication page



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: 1232G>A; Arg411Gln
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Distribution of Cerebrovascular Phenotypes According to Variants of the ENG and ACVRL1 Genes in Subjects with Hereditary Hemorrhagic Telangiectasia.

Journal Of Clinical Medicine
Gaetani, Eleonora E; Peppucci, Elisabetta E; Agostini, Fabiana F; Di Martino, Luigi L; Lucci Cordisco, Emanuela E; Sturiale, Carmelo L CL; Puca, Alfredo A; Porfidia, Angelo A; Alexandre, Andrea A; Pedicelli, Alessandro A; Pola, Roberto R
Publication Date: 2022-05-10

Variant appearance in text: ACVRL1: 1232G>A
PubMed Link: 35628811
Variant Present in the following documents:
  • jcm-11-02685.pdf
View BVdb publication page



Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.

Bmc Medical Genomics
Kitayama, Kana K; Ishiguro, Tomoya T; Komiyama, Masaki M; Morisaki, Takayuki T; Morisaki, Hiroko H; Minase, Gaku G; Hamanaka, Kohei K; Miyatake, Satoko S; Matsumoto, Naomichi N; Kato, Masaru M; Takahashi, Toru T; Yorifuji, Tohru T
Publication Date: 2021-12-06

Variant appearance in text: ACVRL1: Arg411Gln
PubMed Link: 34872578
Variant Present in the following documents:
  • Main text
  • 12920_2021_1139_MOESM1_ESM.xlsx, sheet 2
  • 12920_2021_Article_1139.pdf
View BVdb publication page



Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine
Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL
Publication Date: 2021-09-09

Variant appearance in text: ACVRL1: R411Q
PubMed Link: 34503567
Variant Present in the following documents:
  • 13073_2021_964_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Current Status of Clinical and Genetic Screening of Hereditary Hemorrhagic Telangiectasia Families in Hungary.

Journal Of Clinical Medicine
Major, Tamás T; Bereczky, Zsuzsanna Z; Gindele, Réka R; Balogh, Gábor G; Rácz, Benedek B; Bora, László L; Kézsmárki, Zsolt Z; Brúgós, Boglárka B; Pfliegler, György G
Publication Date: 2021-08-24

Variant appearance in text: ACVRL1: 1232G>A
PubMed Link: 34501220
Variant Present in the following documents:
  • Main text
  • jcm-10-03774.pdf
View BVdb publication page



Pulmonary arterial hypertension in a patient with hereditary hemorrhagic telangiectasia and family gene analysis: A case report.

World Journal Of Clinical Cases
Wu, Jian J; Yuan, Yuan Y; Wang, Xin X; Shao, Dong-Ying DY; Liu, Li-Guo LG; He, Jian J; Li, Peng P
Publication Date: 2021-05-06

Variant appearance in text: ACVRL1: Arg411Gln; rs121909284
PubMed Link: 33969094
Variant Present in the following documents:
  • Main text
View BVdb publication page



Founder Effects in Hereditary Hemorrhagic Telangiectasia.

Journal Of Clinical Medicine
Major, Tamás T; Gindele, Réka R; Balogh, Gábor G; Bárdossy, Péter P; Bereczky, Zsuzsanna Z
Publication Date: 2021-04-14

Variant appearance in text: ACVRL1: 1232G>A
PubMed Link: 33919892
Variant Present in the following documents:
  • Main text
View BVdb publication page



Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications
Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L
Publication Date: 2021-04-19

Variant appearance in text: ACVRL1: R411Q
PubMed Link: 33875650
Variant Present in the following documents:
  • 41467_2021_22481_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Differential Expression of Circulating Plasma miRNA-370 and miRNA-10a from Patients with Hereditary Hemorrhagic Telangiectasia.

Journal Of Clinical Medicine
Ruiz-Llorente, Lidia L; Albiñana, Virginia V; Botella, Luisa M LM; Bernabeu, Carmelo C
Publication Date: 2020-09-03

Variant appearance in text: HHT: 1232G>A
PubMed Link: 32899377
Variant Present in the following documents:
  • Main text
  • jcm-09-02855.pdf
View BVdb publication page



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: 1232G>A; Arg411Gln
PubMed Link: 32503579
Variant Present in the following documents:
View BVdb publication page



Identification of 12 cancer types through genome deep learning.

Scientific Reports
Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W
Publication Date: 2019-11-21

Variant appearance in text: ACVRL1: R411Q
PubMed Link: 31754222
Variant Present in the following documents:
  • 41598_2019_53989_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1.

American Journal Of Human Genetics
Snellings, Daniel A DA; Gallione, Carol J CJ; Clark, Dewi S DS; Vozoris, Nicholas T NT; Faughnan, Marie E ME; Marchuk, Douglas A DA
Publication Date: 2019-11-07

Variant appearance in text: ACVRL1: 1232G>A
PubMed Link: 31630786
Variant Present in the following documents:
  • Main text
View BVdb publication page



Current Status of Clinical Diagnosis and Genetic Analysis of Hereditary Hemorrhagic Telangiectasia in South Korea: Multicenter Case Series and a Systematic Review.

Neurointervention
Kim, Donghyun D; Seo, Eul-Ju EJ; Song, Yun Sun YS; Suh, Chong Hyun CH; Kim, Jong Won JW; Kim, Dong Joon DJ; Suh, Dae Chul DC
Publication Date: 2019-09

Variant appearance in text: ACVRL1: 1232G>A
PubMed Link: 31455059
Variant Present in the following documents:
  • Main text
  • neuroint-2019-00150.pdf
View BVdb publication page



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: 1232G>A
PubMed Link: 31400083
Variant Present in the following documents:
  • Main text
  • MGG3-7-e893.pdf
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: ACVRL1: 1232G>A; Arg411Gln
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
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: rs121909284
PubMed Link: 30617053
Variant Present in the following documents:
  • Main text
  • bsr-39-bsr20181217.pdf
View BVdb publication page



Activin receptor-like kinase 1 is associated with immune cell infiltration and regulates CLEC14A transcription in cancer.

Angiogenesis
Bocci, Matteo M; Sjölund, Jonas J; Kurzejamska, Ewa E; Lindgren, David D; Marzouka, Nour-Al-Dain NA; Bartoschek, Michael M; Höglund, Mattias M; Pietras, Kristian K
Publication Date: 2019-02

Variant appearance in text: ACVRL1: R411Q
PubMed Link: 30132150
Variant Present in the following documents:
  • Main text
  • 10456_2018_9642_MOESM2_ESM.xlsx, sheet 1
  • 10456_2018_Article_9642.pdf
View BVdb publication page



Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients.

Respiratory Research
Yang, Hang H; Zeng, Qixian Q; Ma, Yanyun Y; Liu, Bingyang B; Chen, Qianlong Q; Li, Wenke W; Xiong, Changming C; Zhou, Zhou Z
Publication Date: 2018-05-09

Variant appearance in text: ACVRL1: 1232G>A
PubMed Link: 29743074
Variant Present in the following documents:
  • Main text
  • 12931_2018_Article_789.pdf
View BVdb publication page



Nintedanib as a novel treatment option in hereditary haemorrhagic telangiectasia.

Bmj Case Reports
Kovacs-Sipos, Evelin E; Holzmann, David D; Scherer, Thomas T; Soyka, Michael B MB
Publication Date: 2017-06-26

Variant appearance in text: HHT: 1232G>A
PubMed Link: 28652319
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: ACVRL1: 1232G>A; Arg411Gln
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: ACVRL1: 1232G>A; R411Q
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: HHT2: R411Q
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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: R411Q
PubMed Link: 26387786
Variant Present in the following documents:
  • Main text
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: ACVRL1: R411Q
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology
Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP
Publication Date: 2015-03

Variant appearance in text: ACVRL1: R411Q
PubMed Link: 25794154
Variant Present in the following documents:
  • pcbi.1004147.s001.xlsx, sheet 1
View BVdb publication page



Long non-coding RNA expression profiles in hereditary haemorrhagic telangiectasia.

Plos One
Tørring, Pernille M PM; Larsen, Martin Jakob MJ; Kjeldsen, Anette D AD; Ousager, Lilian Bomme LB; Tan, Qihua Q; Brusgaard, Klaus K
Publication Date: 2014

Variant appearance in text: ACVRL1: Arg411Gln
PubMed Link: 24603890
Variant Present in the following documents:
  • Main text
  • pone.0090272.pdf
View BVdb publication page



HHT diagnosis by Mid-infrared spectroscopy and artificial neural network analysis.

Orphanet Journal Of Rare Diseases
Lux, Andreas A; Müller, Ralf R; Tulk, Mark M; Olivieri, Carla C; Zarrabeita, Roberto R; Salonikios, Theresia T; Wirnitzer, Bernhard B
Publication Date: 2013-06-27

Variant appearance in text: HHT: 1232G>A
PubMed Link: 23805858
Variant Present in the following documents:
  • Main text
  • 1750-1172-8-94.pdf
View BVdb publication page



Functional analysis of saxophone, the Drosophila gene encoding the BMP type I receptor ortholog of human ALK1/ACVRL1 and ACVR1/ALK2.

Genetics
Twombly, Vern V; Bangi, Erdem E; Le, Viet V; Malnic, Bettina B; Singer, Matthew A MA; Wharton, Kristi A KA
Publication Date: 2009-10

Variant appearance in text: HHT2: R411Q
PubMed Link: 19620392
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia.

Bmc Medical Genetics
Fontalba, Ana A; Fernandez-L, Africa A; García-Alegria, Eva E; Albiñana, Virginia V; Garrido-Martin, Eva M EM; Blanco, Francisco J FJ; Zarrabeitia, Roberto R; Perez-Molino, Alfonso A; Bernabeu-Herrero, Maria E ME; Ojeda, Maria-Luisa ML; Fernandez-Luna, Jose L JL; Bernabeu, Carmelo C; Botella, Luisa M LM
Publication Date: 2008-08-01

Variant appearance in text: HHT: 1232G>A
PubMed Link: 18673552
Variant Present in the following documents:
  • Main text
  • 1471-2350-9-75.pdf
View BVdb publication page



Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations.

The Journal Of Molecular Diagnostics : Jmd
Gedge, Friederike F; McDonald, Jamie J; Phansalkar, Amit A; Chou, Lan-Szu LS; Calderon, Fernanda F; Mao, Rong R; Lyon, Elaine E; Bayrak-Toydemir, Pinar P
Publication Date: 2007-04

Variant appearance in text: ACVRL1: 1232G>A
PubMed Link: 17384219
Variant Present in the following documents:
  • Main text
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: ACVRL1: R411Q
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