FLT4 c.3391G>A ;(p.G1131S)

Variant ID: 5-180040051-C-T

NM_182925.4(FLT4):c.3391G>A;(p.G1131S)

This variant was identified in 8 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: FLT4: 3391G>A; Gly1131Ser
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects.

European Journal Of Medical Research
Tabib, Avisa A; Talebi, Taravat T; Ghasemi, Serwa S; Pourirahim, Maryam M; Naderi, Niloofar N; Maleki, Majid M; Kalayinia, Samira S
Publication Date: 2022-12-10

Variant appearance in text: FLT4: 3391G>A; rs1554109707
PubMed Link: 36496429
Variant Present in the following documents:
  • Main text
  • 40001_2022_Article_920.pdf
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: FLT4: G1131S
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Identification of different mutational profiles in cancers arising in specific colon segments by next generation sequencing.

Oncotarget
Oliveira, Duarte Mendes DM; Laudanna, Carmelo C; Migliozzi, Simona S; Zoppoli, Pietro P; Santamaria, Gianluca G; Grillone, Katia K; Elia, Laura L; Mignogna, Chiara C; Biamonte, Flavia F; Sacco, Rosario R; Corcione, Francesco F; Viglietto, Giuseppe G; Malanga, Donatella D; Rizzuto, Antonia A
Publication Date: 2018-05-08

Variant appearance in text: FLT4: G1131S
PubMed Link: 29844865
Variant Present in the following documents:
  • oncotarget-09-23960-s003.xlsx, sheet 1
View BVdb publication page



Next-generation sequencing analysis of receptor-type tyrosine kinase genes in surgically resected colon cancer: identification of gain-of-function mutations in the RET proto-oncogene.

Journal Of Experimental & Clinical Cancer Research : Cr
Mendes Oliveira, Duarte D; Grillone, Katia K; Mignogna, Chiara C; De Falco, Valentina V; Laudanna, Carmelo C; Biamonte, Flavia F; Locane, Rosa R; Corcione, Francesco F; Fabozzi, Massimiliano M; Sacco, Rosario R; Viglietto, Giuseppe G; Malanga, Donatella D; Rizzuto, Antonia A
Publication Date: 2018-04-17

Variant appearance in text: FLT4: G1131S
PubMed Link: 29665843
Variant Present in the following documents:
  • Main text
  • 13046_2018_746_MOESM2_ESM.xlsx, sheet 1
  • 13046_2018_Article_746.pdf
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: FLT4: 3391G>A; G1131S
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: FLT4: G1131S
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page



Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema.

Molecular Syndromology
Mendola, A A; Schlögel, M J MJ; Ghalamkarpour, A A; Irrthum, A A; Nguyen, H L HL; Fastré, E E; Bygum, A A; van der Vleuten, C C; Fagerberg, C C; Baselga, E E; Quere, I I; Mulliken, J B JB; Boon, L M LM; Brouillard, P P; Vikkula, M M; ,
Publication Date: 2013-09

Variant appearance in text: FLT4: 3391G>A
PubMed Link: 24167460
Variant Present in the following documents:
  • Main text
View BVdb publication page