IRS1 c.702G>A ;(p.G234=)

Variant ID: 2-227662753-C-T

NM_005544.2(IRS1):c.702G>A;(p.G234=)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Identification of Genetic Variants in 65 Obesity Related Genes in a Cohort of Portuguese Obese Individuals.

Genes
Ginete, Catarina C; Serrasqueiro, Bernardo B; Silva-Nunes, José J; Veiga, Luísa L; Brito, Miguel M
Publication Date: 2021-04-19

Variant appearance in text: IRS1: 702G>A; rs2234931
PubMed Link: 33921825
Variant Present in the following documents:
  • Main text
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: IRS1: G234G; rs2234931
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: IRS1: G234G; rs2234931
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



The Gly(972)Arg variant of human IRS1 gene is associated with variation in glomerular filtration rate likely through impaired insulin receptor signaling.

Diabetes
Thameem, Farook F; Puppala, Sobha S; Schneider, Jennifer J; Bhandari, Basant B; Arya, Rector R; Arar, Nedal H NH; Vasylyeva, Tetyana L TL; Farook, Vidya S VS; Fowler, Sharon S; Almasy, Laura L; Blangero, John J; Duggirala, Ravindranath R; Abboud, Hanna E HE
Publication Date: 2012-09

Variant appearance in text: IRS1: Gly234Gly; rs2234931
PubMed Link: 22617042
Variant Present in the following documents:
  • Main text
View BVdb publication page



Is there a genetic cause of appetite loss?-an explorative study in 1,853 cancer patients.

Journal Of Cachexia, Sarcopenia And Muscle
Solheim, Tora S TS; Fayers, Peter M PM; Fladvad, Torill T; Tan, Ben B; Skorpen, Frank F; Fearon, Kenneth K; Baracos, Vickie E VE; Klepstad, Pål P; Strasser, Florian F; Kaasa, Stein S; ,
Publication Date: 2012-09

Variant appearance in text: rs2234931
PubMed Link: 22535570
Variant Present in the following documents:
  • Main text
View BVdb publication page



Is there a genetic cause for cancer cachexia? - a clinical validation study in 1797 patients.

British Journal Of Cancer
Solheim, T S TS; Fayers, P M PM; Fladvad, T T; Tan, B B; Skorpen, F F; Fearon, K K; Baracos, V E VE; Klepstad, P P; Strasser, F F; Kaasa, S S
Publication Date: 2011-10-11

Variant appearance in text: rs2234931
PubMed Link: 21934689
Variant Present in the following documents:
  • Main text
  • bjc2011323a.pdf
View BVdb publication page