INSR c.101-531C>T

Variant ID: 19-7268438-G-A

NM_000208.2(INSR):c.101-531C>T

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Systems Genetics Reveals the Functional Context of PCOS Loci and Identifies Genetic and Molecular Mechanisms of Disease Heterogeneity.

Plos Genetics
Jones, Michelle R MR; Brower, Meredith A MA; Xu, Ning N; Cui, Jinrui J; Mengesha, Emebet E; Chen, Yii-Der I YD; Taylor, Kent D KD; Azziz, Ricardo R; Goodarzi, Mark O MO
Publication Date: 2015-08

Variant appearance in text: rs7248939
PubMed Link: 26305227
Variant Present in the following documents:
  • Main text
View BVdb publication page



The association between polymorphism of INSR and polycystic ovary syndrome: a meta-analysis.

International Journal Of Molecular Sciences
Feng, Chun C; Lv, Ping-Ping PP; Yu, Tian-Tian TT; Jin, Min M; Shen, Jin-Ming JM; Wang, Xue X; Zhou, Feng F; Jiang, Shi-Wen SW
Publication Date: 2015-01-22

Variant appearance in text: rs7248939
PubMed Link: 25622255
Variant Present in the following documents:
  • Main text
  • ijms-16-02403.pdf
View BVdb publication page



Founder effect in the Horn of Africa for an insulin receptor mutation that may impair receptor recycling.

Diabetologia
Raffan, E E; Soos, M A MA; Rocha, N N; Tuthill, A A; Thomsen, A R AR; Hyden, C S CS; Gregory, J W JW; Hindmarsh, P P; Dattani, M M; Cochran, E E; Al Kaabi, J J; Gorden, P P; Barroso, I I; Morling, N N; O'Rahilly, S S; Semple, R K RK
Publication Date: 2011-05

Variant appearance in text: rs7248939
PubMed Link: 21318406
Variant Present in the following documents:
  • Main text
  • 125_2011_Article_2066.pdf
View BVdb publication page