IGF1R c.568C>T ;(p.P190S)

Variant ID: 15-99251264-C-T

NM_000875.3(IGF1R):c.568C>T;(p.P190S)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.

Therapeutic Advances In Medical Oncology
Scheipl, Susanne S; Brcic, Iva I; Moser, Tina T; Fischerauer, Stefan S; Riedl, Jakob J; Bergovec, Marko M; Smolle, Maria M; Posch, Florian F; Gerger, Armin A; Pichler, Martin M; Stoeger, Herbert H; Leithner, Andreas A; Heitzer, Ellen E; Liegl-Atzwanger, Bernadette B; Szkandera, Joanna J
Publication Date: 2021

Variant appearance in text: IGF1R: P190S
PubMed Link: 34367342
Variant Present in the following documents:
  • sj-xlsx-1-tam-10.1177_17588359211029125.xlsx, sheet 1
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: IGF1R: 568C>T
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.

Plos Genetics
de Voer, Richarda M RM; Hahn, Marc-Manuel MM; Weren, Robbert D A RD; Mensenkamp, Arjen R AR; Gilissen, Christian C; van Zelst-Stams, Wendy A WA; Spruijt, Liesbeth L; Kets, C Marleen CM; Zhang, Junxiao J; Venselaar, Hanka H; Vreede, Lilian L; Schubert, Nil N; Tychon, Marloes M; Derks, Ronny R; Schackert, Hans K HK; Geurts van Kessel, Ad A; Hoogerbrugge, Nicoline N; Ligtenberg, Marjolijn J L MJ; Kuiper, Roland P RP
Publication Date: 2016-02

Variant appearance in text: IGF1R: P190S; rs144739747
PubMed Link: 26901136
Variant Present in the following documents:
  • pgen.1005880.s003.xlsx, sheet 1
View BVdb publication page



Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.

Current Genetic Medicine Reports
Heuzé, Yann Y; Holmes, Gregory G; Peter, Inga I; Richtsmeier, Joan T JT; Jabs, Ethylin Wang EW
Publication Date: 2014-09-01

Variant appearance in text: IGF1R: P190S
PubMed Link: 26146596
Variant Present in the following documents:
  • Main text
View BVdb publication page



IGF1R variants associated with isolated single suture craniosynostosis.

American Journal Of Medical Genetics. Part A
Cunningham, Michael L ML; Horst, Jeremy A JA; Rieder, Mark J MJ; Hing, Anne V AV; Stanaway, Ian B IB; Park, Sarah S SS; Samudrala, Ram R; Speltz, Matthew L ML
Publication Date: 2011-01

Variant appearance in text: IGF1R: P190S
PubMed Link: 21204214
Variant Present in the following documents:
  • Main text
View BVdb publication page