COL3A1 c.4295G>T ;(p.R1432L)

Variant ID: 2-189876394-G-T

NM_000090.3(COL3A1):c.4295G>T;(p.R1432L)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Integrative proteogenomic characterization of hepatocellular carcinoma across etiologies and stages.

Nature Communications
Ng, Charlotte K Y CKY; Dazert, Eva E; Boldanova, Tuyana T; Coto-Llerena, Mairene M; Nuciforo, Sandro S; Ercan, Caner C; Suslov, Aleksei A; Meier, Marie-Anne MA; Bock, Thomas T; Schmidt, Alexander A; Ketterer, Sylvia S; Wang, Xueya X; Wieland, Stefan S; Matter, Matthias S MS; Colombi, Marco M; Piscuoglio, Salvatore S; Terracciano, Luigi M LM; Hall, Michael N MN; Heim, Markus H MH
Publication Date: 2022-05-04

Variant appearance in text: COL3A1: 4295G>T; Arg1432Leu
PubMed Link: 35508466
Variant Present in the following documents:
  • 41467_2022_29960_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page



Epigenetic priming in chronic liver disease impacts the transcriptional and genetic landscapes of hepatocellular carcinoma.

Molecular Oncology
Gallon, John J; Coto-Llerena, Mairene M; Ercan, Caner C; Bianco, Gaia G; Paradiso, Viola V; Nuciforo, Sandro S; Taha-Melitz, Stephanie S; Meier, Marie-Anne MA; Boldanova, Tujana T; Pérez-Del-Pulgar, Sofía S; Rodríguez-Tajes, Sergio S; von Flüe, Markus M; Soysal, Savas D SD; Kollmar, Otto O; Llovet, Josep M JM; Villanueva, Augusto A; Terracciano, Luigi M LM; Heim, Markus H MH; Ng, Charlotte K Y CKY; Piscuoglio, Salvatore S
Publication Date: 2022-02

Variant appearance in text: COL3A1: 4295G>T; Arg1432Leu
PubMed Link: 34863035
Variant Present in the following documents:
  • MOL2-16-665-s001.xlsx, sheet 5
View BVdb publication page



A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement.

Molecular Genetics & Genomic Medicine
Ruscitti, Federica F; Trevisan, Lucia L; Rosti, Giulia G; Gotta, Fabio F; Cianflone, Annalia A; Geroldi, Alessandro A; Origone, Paola P; Pichiecchio, Anna A; Viglio, Simona S; Iascone, Maria M; Mandich, Paola P
Publication Date: 2021-09

Variant appearance in text: COL3A1: R1432L
PubMed Link: 34318601
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1753.pdf
View BVdb publication page



A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement.

Molecular Genetics & Genomic Medicine
Ruscitti, Federica F; Trevisan, Lucia L; Rosti, Giulia G; Gotta, Fabio F; Cianflone, Annalia A; Geroldi, Alessandro A; Origone, Paola P; Pichiecchio, Anna A; Viglio, Simona S; Iascone, Maria M; Mandich, Paola P
Publication Date: 2021-09

Variant appearance in text: COL3A1: R1432L
PubMed Link: 34318601
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1753.pdf
View BVdb publication page



Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing.

Circulation. Genomic And Precision Medicine
Carss, Keren J KJ; Baranowska, Anna A AA; Armisen, Javier J; Webb, Tom R TR; Hamby, Stephen E SE; Premawardhana, Diluka D; Al-Hussaini, Abtehale A; Wood, Alice A; Wang, Quanli Q; Deevi, Sri V V SVV; Vitsios, Dimitrios D; Lewis, Samuel H SH; Kotecha, Deevia D; Bouatia-Naji, Nabila N; Hesselson, Stephanie S; Iismaa, Siiri E SE; Tarr, Ingrid I; McGrath-Cadell, Lucy L; Muller, David W DW; Dunwoodie, Sally L SL; Fatkin, Diane D; Graham, Robert M RM; Giannoulatou, Eleni E; Samani, Nilesh J NJ; Petrovski, Slavé S; Haefliger, Carolina C; Adlam, David D
Publication Date: 2020-12

Variant appearance in text: COL3A1: 4295G>T; Arg1432Leu
PubMed Link: 33125268
Variant Present in the following documents:
  • hcg-13-e003030.pdf
  • hcg-13-e003030-s002.pdf
View BVdb publication page



Hepatocellular Carcinoma Xenografts Established From Needle Biopsies Preserve the Characteristics of the Originating Tumors.

Hepatology Communications
Blumer, Tanja T; Fofana, Isabel I; Matter, Matthias S MS; Wang, Xueya X; Montazeri, Hesam H; Calabrese, Diego D; Coto-Llerena, Mairene M; Boldanova, Tujana T; Nuciforo, Sandro S; Kancherla, Venkatesh V; Tornillo, Luigi L; Piscuoglio, Salvatore S; Wieland, Stefan S; Terracciano, Luigi M LM; Ng, Charlotte K Y CKY; Heim, Markus H MH
Publication Date: 2019-07

Variant appearance in text: COL3A1: 4295G>T; Arg1432Leu
PubMed Link: 31334445
Variant Present in the following documents:
  • HEP4-3-971-s003.xlsx, sheet 1
View BVdb publication page



Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

Gene
Kuivaniemi, Helena H; Tromp, Gerard G
Publication Date: 2019-07-30

Variant appearance in text: COL3A1: Arg1432Leu
PubMed Link: 31075413
Variant Present in the following documents:
  • Main text
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: COL3A1: R1432L
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
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: COL3A1: 4295G>T; R1432L
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page