IGF1R c.4038C>A ;(p.Y1346*)

Variant ID: 15-99500605-C-A

NM_000875.3(IGF1R):c.4038C>A;(p.Y1346*)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: N/A
PubMed Link: 36755093
Variant Present in the following documents:
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs17847203
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



Relationship between insulin-like growth factor axis gene polymorphisms and clinical outcome in advanced gastric cancer patients treated with FOLFOX.

Oncotarget
Oh, Sung Yong SY; Shin, Aesun A; Kim, Seong-Geun SG; Hwang, Jung-Ah JA; Hong, Seung Hyun SH; Lee, Yeon-Su YS; Kwon, Hyuk-Chan HC
Publication Date: 2016-05-24

Variant appearance in text: rs17847203
PubMed Link: 27144430
Variant Present in the following documents:
  • Main text
  • oncotarget-07-31204.pdf
View BVdb publication page



Candidate gene resequencing to identify rare, pedigree-specific variants influencing healthy aging phenotypes in the long life family study.

Bmc Geriatrics
Druley, Todd E TE; Wang, Lihua L; Lin, Shiow J SJ; Lee, Joseph H JH; Zhang, Qunyuan Q; Daw, E Warwick EW; Abel, Haley J HJ; Chasnoff, Sara E SE; Ramos, Enrique I EI; Levinson, Benjamin T BT; Thyagarajan, Bharat B; Newman, Anne B AB; Christensen, Kaare K; Mayeux, Richard R; Province, Michael A MA
Publication Date: 2016-04-09

Variant appearance in text: rs17847203
PubMed Link: 27060904
Variant Present in the following documents:
  • 12877_2016_253_MOESM1_ESM.pdf
View BVdb publication page



A comprehensive in silico analysis of the functional and structural impact of SNPs in the IGF1R gene.

Journal Of Biomedicine & Biotechnology
de Alencar, S A SA; Lopes, Julio C D JC
Publication Date: 2010

Variant appearance in text: rs17847203
PubMed Link: 20625407
Variant Present in the following documents:
  • Main text
  • JBB2010-715139.pdf
View BVdb publication page



Sequence variation in IGF1R is associated with differences in insulin levels in nondiabetic Old Order Amish.

Diabetes/Metabolism Research And Reviews
Naj, Adam C AC; Kao, Wen-Hong L WH; O'Connell, Jeffrey R JR; Mitchell, Braxton D BD; Silver, Kristi D KD
Publication Date: 2009-11

Variant appearance in text: rs17847203
PubMed Link: 19877134
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in healthy oldest-old.

Plos One
Halaschek-Wiener, Julius J; Amirabbasi-Beik, Mahsa M; Monfared, Nasim N; Pieczyk, Markus M; Sailer, Christian C; Kollar, Anita A; Thomas, Ruth R; Agalaridis, Georgios G; Yamada, So S; Oliveira, Lisa L; Collins, Jennifer A JA; Meneilly, Graydon G; Marra, Marco A MA; Madden, Kenneth M KM; Le, Nhu D ND; Connors, Joseph M JM; Brooks-Wilson, Angela R AR
Publication Date: 2009-08-14

Variant appearance in text: rs17847203
PubMed Link: 19680556
Variant Present in the following documents:
  • pone.0006641.s001.xls, sheet 1
View BVdb publication page