COL3A1 c.575G>A ;(p.G192D)

Variant ID: 2-189852853-G-A

NM_000090.3(COL3A1):c.575G>A;(p.G192D)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: COL3A1: 575G>A; G192D
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: COL3A1: 575G>A
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



Oral phenotype and scoring of vascular Ehlers-Danlos syndrome: a case-control study.

Bmj Open
Ferré, François Côme FC; Frank, Michael M; Gogly, Bruno B; Golmard, Lisa L; Naveau, Adrien A; Chérifi, Hafida H; Emmerich, Joseph J; Gaultier, Frédérick F; Berdal, Ariane A; Jeunemaitre, Xavier X; Fournier, Benjamin P J BP
Publication Date: 2012

Variant appearance in text: COL3A1: 575G>A; Gly192Asp
PubMed Link: 22492385
Variant Present in the following documents:
  • Main text
  • bmjopen-2011-000705.draft_revisions.pdf
  • bmjopen-2011-000705.pdf
View BVdb publication page



Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma.

Nature
Morin, Ryan D RD; Mendez-Lago, Maria M; Mungall, Andrew J AJ; Goya, Rodrigo R; Mungall, Karen L KL; Corbett, Richard D RD; Johnson, Nathalie A NA; Severson, Tesa M TM; Chiu, Readman R; Field, Matthew M; Jackman, Shaun S; Krzywinski, Martin M; Scott, David W DW; Trinh, Diane L DL; Tamura-Wells, Jessica J; Li, Sa S; Firme, Marlo R MR; Rogic, Sanja S; Griffith, Malachi M; Chan, Susanna S; Yakovenko, Oleksandr O; Meyer, Irmtraud M IM; Zhao, Eric Y EY; Smailus, Duane D; Moksa, Michelle M; Chittaranjan, Suganthi S; Rimsza, Lisa L; Brooks-Wilson, Angela A; Spinelli, John J JJ; Ben-Neriah, Susana S; Meissner, Barbara B; Woolcock, Bruce B; Boyle, Merrill M; McDonald, Helen H; Tam, Angela A; Zhao, Yongjun Y; Delaney, Allen A; Zeng, Thomas T; Tse, Kane K; Butterfield, Yaron Y; Birol, Inanç I; Holt, Rob R; Schein, Jacqueline J; Horsman, Douglas E DE; Moore, Richard R; Jones, Steven J M SJ; Connors, Joseph M JM; Hirst, Martin M; Gascoyne, Randy D RD; Marra, Marco A MA
Publication Date: 2011-07-27

Variant appearance in text: COL3A1: G192D
PubMed Link: 21796119
Variant Present in the following documents:
  • NIHMS313098-supplement-6.xls, sheet 1
View BVdb publication page