PDGFRA c.2530_2532del ;(p.M844del)

Variant ID: 4-55152098-CATG-C

NM_006206.4(PDGFRA):c.2530_2532del;(p.M844del)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Computational analysis reveals histotype-dependent molecular profile and actionable mutation effects across cancers.

Genome Medicine
Heim, Daniel D; Montavon, Grégoire G; Hufnagl, Peter P; Müller, Klaus-Robert KR; Klauschen, Frederick F
Publication Date: 2018-11-15

Variant appearance in text: PDGFRA: M844del
PubMed Link: 30442178
Variant Present in the following documents:
  • 13073_2018_591_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

The Journal Of Molecular Diagnostics : Jmd
MacConaill, Laura E LE; Garcia, Elizabeth E; Shivdasani, Priyanka P; Ducar, Matthew M; Adusumilli, Ravali R; Breneiser, Marc M; Byrne, Mark M; Chung, Lawrence L; Conneely, Jodie J; Crosby, Lauren L; Garraway, Levi A LA; Gong, Xin X; Hahn, William C WC; Hatton, Charlie C; Kantoff, Philip W PW; Kluk, Michael M; Kuo, Frank F; Jia, Yonghui Y; Joshi, Ruchi R; Longtine, Janina J; Manning, Allison A; Palescandolo, Emanuele E; Sharaf, Nematullah N; Sholl, Lynette L; van Hummelen, Paul P; Wade, Jacqueline J; Wollinson, Bruce M BM; Zepf, Dimity D; Rollins, Barrett J BJ; Lindeman, Neal I NI
Publication Date: 2014-11

Variant appearance in text: PDGFRA: M844del
PubMed Link: 25157968
Variant Present in the following documents:
  • Main text
View BVdb publication page



Post-transcriptional dysregulation by miRNAs is implicated in the pathogenesis of gastrointestinal stromal tumor [GIST].

Plos One
Kelly, Lorna L; Bryan, Kenneth K; Kim, Su Young SY; Janeway, Katherine A KA; Killian, J Keith JK; Schildhaus, Hans-Ulrich HU; Miettinen, Markku M; Helman, Lee L; Meltzer, Paul S PS; van de Rijn, Matt M; Debiec-Rychter, Maria M; O'Sullivan, Maureen M; ,
Publication Date: 2013

Variant appearance in text: PDGFRA: M844del
PubMed Link: 23717541
Variant Present in the following documents:
  • Main text
  • pone.0064102.pdf
View BVdb publication page



Profiling critical cancer gene mutations in clinical tumor samples.

Plos One
MacConaill, Laura E LE; Campbell, Catarina D CD; Kehoe, Sarah M SM; Bass, Adam J AJ; Hatton, Charles C; Niu, Lili L; Davis, Matt M; Yao, Keluo K; Hanna, Megan M; Mondal, Chandrani C; Luongo, Lauren L; Emery, Caroline M CM; Baker, Alissa C AC; Philips, Juliet J; Goff, Deborah J DJ; Fiorentino, Michelangelo M; Rubin, Mark A MA; Polyak, Kornelia K; Chan, Jennifer J; Wang, Yuexiang Y; Fletcher, Jonathan A JA; Santagata, Sandro S; Corso, Gianni G; Roviello, Franco F; Shivdasani, Ramesh R; Kieran, Mark W MW; Ligon, Keith L KL; Stiles, Charles D CD; Hahn, William C WC; Meyerson, Matthew L ML; Garraway, Levi A LA
Publication Date: 2009-11-18

Variant appearance in text: PDGFRA: M844del
PubMed Link: 19924296
Variant Present in the following documents:
  • pone.0007887.s002.xls, sheet 1
View BVdb publication page