FBN1 c.2495G>C ;(p.C832S)

Variant ID: 15-48787710-C-G

NM_000138.4(FBN1):c.2495G>C;(p.C832S)

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: FBN1: 2495G>C; Cys832Ser
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Are transient protein-protein interactions more dispensable?

Plos Computational Biology
Ghadie, Mohamed Ali MA; Xia, Yu Y
Publication Date: 2022-04

Variant appearance in text: FBN1: 2495G>C; Cys832Ser
PubMed Link: 35404956
Variant Present in the following documents:
  • pcbi.1010013.s002.xlsx, sheet 4
View BVdb publication page



Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.

Plos One
Perne, Claudia C; Peters, Sophia S; Cartolano, Maria M; Horpaopan, Sukanya S; Grimm, Christina C; Altmüller, Janine J; Sommer, Anna K AK; Hillmer, Axel M AM; Thiele, Holger H; Odenthal, Margarete M; Möslein, Gabriela G; Adam, Ronja R; Sivalingam, Sugirthan S; Kirfel, Jutta J; Schweiger, Michal R MR; Peifer, Martin M; Spier, Isabel I; Aretz, Stefan S
Publication Date: 2021

Variant appearance in text: FBN1: 2495G>C
PubMed Link: 34843512
Variant Present in the following documents:
  • pone.0259185.s010.xlsx, sheet 1
View BVdb publication page



Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.

Plos One
Perne, Claudia C; Peters, Sophia S; Cartolano, Maria M; Horpaopan, Sukanya S; Grimm, Christina C; Altmüller, Janine J; Sommer, Anna K AK; Hillmer, Axel M AM; Thiele, Holger H; Odenthal, Margarete M; Möslein, Gabriela G; Adam, Ronja R; Sivalingam, Sugirthan S; Kirfel, Jutta J; Schweiger, Michal R MR; Peifer, Martin M; Spier, Isabel I; Aretz, Stefan S
Publication Date: 2021

Variant appearance in text: FBN1: 2495G>C
PubMed Link: 34843512
Variant Present in the following documents:
  • pone.0259185.s010.xlsx, 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: FBN1: 2495G>C; C832S
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page