IGF1R c.3148G>A ;(p.E1050K)

Variant ID: 15-99478244-G-A

NM_000875.3(IGF1R):c.3148G>A;(p.E1050K)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; BalmaƱa, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: IGF1R: E1050K
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 4
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: IGF1R: E1050K
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Intrauterine Twin Discordancy and Partial Postnatal Catch-up Growth in a Girl with a Pathogenic IGF1R Mutation

Journal Of Clinical Research In Pediatric Endocrinology
Ocaranza, Paula P; Losekoot, Monique M; Walenkamp, Marie J. E. MJE; De Bruin, Christiaan C; Wit, Jan M. JM; Mericq, Veronica V
Publication Date: 2019-09-03

Variant appearance in text: IGF1R: 3148G>A
PubMed Link: 30859796
Variant Present in the following documents:
  • Main text
  • JCRPE-11-293.pdf
View BVdb publication page



IGF1R Gene Alterations in Small for Gestational Age (SGA) Children.

Open Access Macedonian Journal Of Medical Sciences
Janchevska, Aleksandra A; Dimovski, Aleksandar A; Mironska, Kristina K; Tasic, Velibor V; Gucev, Zoran Z
Publication Date: 2018-05-20

Variant appearance in text: IGF1R: E1050K
PubMed Link: 29896311
Variant Present in the following documents:
  • Main text
  • OAMJMS-6-790.pdf
View BVdb publication page



Response to Growth Hormone Treatment in a Patient with Insulin-Like Growth Factor 1 Receptor Deletion.

Journal Of Clinical Research In Pediatric Endocrinology
Mahmoud, Ranim R; Naidu, Ajanta A; Risheg, Hiba H; Kimonis, Virginia V
Publication Date: 2017-12-15

Variant appearance in text: IGF1R: Glu1050Lys
PubMed Link: 28720553
Variant Present in the following documents:
  • JCRPE-9-380.pdf
View BVdb publication page



Large-scale analysis of variation in the insulin-like growth factor family in humans reveals rare disease links and common polymorphisms.

The Journal Of Biological Chemistry
Rotwein, Peter P
Publication Date: 2017-06-02

Variant appearance in text: IGF1R: E1050K
PubMed Link: 28389567
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic factors associated with small for gestational age birth and the use of human growth hormone in treating the disorder.

International Journal Of Pediatric Endocrinology
Saenger, Paul P; Reiter, Edward E
Publication Date: 2012-05-15

Variant appearance in text: IGF1R: E1050K
PubMed Link: 22587301
Variant Present in the following documents:
  • 1687-9856-2012-12.pdf
View BVdb publication page