IRS1 c.1534G>C ;(p.A512P)

Variant ID: 2-227661921-C-G

NM_005544.2(IRS1):c.1534G>C;(p.A512P)

This variant was identified in 18 publications

View GRCh38 version.




Publications:


Current Studies on Molecular Mechanisms of Insulin Resistance.

Journal Of Diabetes Research
Pei, Jinli J; Wang, Baochun B; Wang, Dayong D
Publication Date: 2022

Variant appearance in text: IRS1: Ala512Pro
PubMed Link: 36589630
Variant Present in the following documents:
  • JDR2022-1863429.pdf
View BVdb publication page



Integrated molecular profiling of patient-derived ovarian cancer models identifies clinically relevant signatures and tumor vulnerabilities.

International Journal Of Cancer
Lupia, Michela M; Melocchi, Valentina V; Bizzaro, Francesca F; Lo Riso, Pietro P; Dama, Elisa E; Baronio, Micol M; Ranghiero, Alberto A; Barberis, Massimo M; Bernard, Loris L; Bertalot, Giovanni G; Giavazzi, Raffaella R; Testa, Giuseppe G; Bianchi, Fabrizio F; Cavallaro, Ugo U
Publication Date: 2022-07-15

Variant appearance in text: IRS1: Ala512Pro; rs1801276
PubMed Link: 35218560
Variant Present in the following documents:
  • IJC-151-240-s001.xlsx, sheet 7
View BVdb publication page



Significant variants of type 2 diabetes in the Arabian Region through an Integration of exome databases.

Plos One
Goto, Kosuke K; Mineta, Katsuhiko K; Miyazaki, Satoru S; Gojobori, Takashi T
Publication Date: 2021

Variant appearance in text: IRS1: 1534G>C; Ala512Pro; rs1801276
PubMed Link: 33848288
Variant Present in the following documents:
  • Main text
  • pone.0249226.pdf
View BVdb publication page



Synthetic modeling reveals HOXB genes are critical for the initiation and maintenance of human leukemia.

Nature Communications
Kusakabe, Manabu M; Sun, Ann Chong AC; Tyshchenko, Kateryna K; Wong, Rachel R; Nanda, Aastha A; Shanna, Claire C; Gusscott, Samuel S; Chavez, Elizabeth A EA; Lorzadeh, Alireza A; Zhu, Alice A; Hill, Ainsleigh A; Hung, Stacy S; Brown, Scott S; Babaian, Artem A; Wang, Xuehai X; Holt, Robert A RA; Steidl, Christian C; Karsan, Aly A; Humphries, R Keith RK; Eaves, Connie J CJ; Hirst, Martin M; Weng, Andrew P AP
Publication Date: 2019-07-02

Variant appearance in text: IRS1: 1534G>C; Ala512Pro; rs1801276
PubMed Link: 31266935
Variant Present in the following documents:
  • 41467_2019_10510_MOESM8_ESM.xlsx, sheet 3
  • 41467_2019_10510_MOESM8_ESM.xlsx, sheet 1
  • 41467_2019_10510_MOESM8_ESM.xlsx, sheet 2
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: IRS1: A512P; rs1801276
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
View BVdb publication page



Genetic Variants in Preeclampsia: Lessons From Studies in Latin-American Populations.

Frontiers In Physiology
Michita, Rafael Tomoya RT; Kaminski, Valéria de Lima VL; Chies, José Artur Bogo JAB
Publication Date: 2018

Variant appearance in text: rs1801276
PubMed Link: 30618791
Variant Present in the following documents:
  • Main text
  • fphys-09-01771.pdf
View BVdb publication page



TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01

Variant appearance in text: IRS1: A512P; rs1801276
PubMed Link: 30385747
Variant Present in the following documents:
  • 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Epidemiology of Type 2 Diabetes in Mexican Mestizos.

Biomed Research International
García-Chapa, Eiralí Guadalupe EG; Leal-Ugarte, Evelia E; Peralta-Leal, Valeria V; Durán-González, Jorge J; Meza-Espinoza, Juan Pablo JP
Publication Date: 2017

Variant appearance in text: rs1801276
PubMed Link: 28607931
Variant Present in the following documents:
  • Main text
  • BMRI2017-3937893.pdf
View BVdb publication page



Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology
Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R
Publication Date: 2016-11

Variant appearance in text: IRS1: A512P; rs1801276
PubMed Link: 27512948
Variant Present in the following documents:
  • PATH-240-315-s015.xlsx, sheet 1
View BVdb publication page



Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05

Variant appearance in text: IRS1: A512P; rs1801276
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs1801276
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: IRS1: A512P
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Associations of Haplotypes Upstream of IRS1 with Insulin Resistance, Type 2 Diabetes, Dyslipidemia, Preclinical Atherosclerosis, and Skeletal Muscle LOC646736 mRNA Levels.

Journal Of Diabetes Research
Soyal, Selma M SM; Felder, Thomas T; Auer, Simon S; Oberkofler, Hannes H; Iglseder, Bernhard B; Paulweber, Bernhard B; Dossena, Silvia S; Nofziger, Charity C; Paulmichl, Markus M; Esterbauer, Harald H; Krempler, Franz F; Patsch, Wolfgang W
Publication Date: 2015

Variant appearance in text: rs1801276
PubMed Link: 26090471
Variant Present in the following documents:
  • Main text
View BVdb publication page



A rare co-segregation-mutation in the insulin receptor substrate 1 gene in one Chinese family with ankylosing spondylitis.

Plos One
Rong, Ju J; Li, Qiuxia Q; Zhang, Pingping P; Wu, Xinyu X; Huang, Jinxian J; Li, Chao C; Liao, Zetao Z; Xie, Yingying Y; Lv, Qing Q; Wei, Qiujing Q; Li, Tianwang T; Huang, Jianlin J; Cao, Shuangyan S; Shen, Yan Y; Gu, Jieruo J
Publication Date: 2015

Variant appearance in text: IRS1: Ala512Pro
PubMed Link: 25978640
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: IRS1: A512P; rs1801276
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s3.xls, sheet 1
View BVdb publication page



IRS1 gene polymorphisms Gly972Arg and Ala513Pro are not associated with insulin resistance and type 2 diabetes risk in non-obese Turkish population.

Meta Gene
Arikoglu, Hilal H; Aksoy Hepdogru, Melda M; Erkoc Kaya, Dudu D; Asik, Aycan A; Ipekci, Suleyman Hilmi SH; Iscioglu, Funda F
Publication Date: 2014-12

Variant appearance in text: rs1801276
PubMed Link: 25606440
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Insulin-like growth factor axis gene polymorphisms and clinical outcomes in pancreatic cancer.

Gastroenterology
Dong, Xiaoqun X; Javle, Milind M; Hess, Kenneth R KR; Shroff, Rachna R; Abbruzzese, James L JL; Li, Donghui D
Publication Date: 2010-08

Variant appearance in text: IRS1: A512P
PubMed Link: 20416304
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in candidate obesity genes ADRB2, ADRB3, GHRL, HSD11B1, IRS1, IRS2, and SHC1 and risk for breast cancer in the Cancer Prevention Study II.

Breast Cancer Research : Bcr
Feigelson, Heather Spencer HS; Teras, Lauren R LR; Diver, W Ryan WR; Tang, Weining W; Patel, Alpa V AV; Stevens, Victoria L VL; Calle, Eugenia E EE; Thun, Michael J MJ; Bouzyk, Mark M
Publication Date: 2008

Variant appearance in text: rs1801276
PubMed Link: 18611262
Variant Present in the following documents:
  • Main text
  • bcr2114.pdf
View BVdb publication page