ABCG8 c.712_713delinsCT ;(p.E238L)

Variant ID: 2-44079755-GA-CT

NM_022437.2(ABCG8):c.712_713delinsCT;(p.E238L)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Picky ABCG5/G8 and promiscuous ABCG2 - a tale of fatty diets and drug toxicity.

Febs Letters
Khunweeraphong, Narakorn N; Mitchell-White, James J; Szöllősi, Dániel D; Hussein, Toka T; Kuchler, Karl K; Kerr, Ian D ID; Stockner, Thomas T; Lee, Jyh-Yeuan JY
Publication Date: 2020-12

Variant appearance in text: ABCG8: E238L
PubMed Link: 32978801
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sitosterolemia, Hypercholesterolemia, and Coronary Artery Disease.

Journal Of Atherosclerosis And Thrombosis
Tada, Hayato H; Nohara, Atsushi A; Inazu, Akihiro A; Sakuma, Nagahiko N; Mabuchi, Hiroshi H; Kawashiri, Masa-Aki MA
Publication Date: 2018-09-01

Variant appearance in text: ABCG8: E238L
PubMed Link: 30033951
Variant Present in the following documents:
  • jat-25-783.pdf
View BVdb publication page



A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans.

Bmc Medical Genetics
Pandit, Bhaswati B; Ahn, Gwang-Sook GS; Hazard, Starr E SE; Gordon, Derek D; Patel, Shailendra B SB
Publication Date: 2006-02-28

Variant appearance in text: ABCG8: E238L
PubMed Link: 16507104
Variant Present in the following documents:
  • Main text
  • 1471-2350-7-13.pdf
View BVdb publication page



Sterolins ABCG5 and ABCG8: regulators of whole body dietary sterols.

Pflugers Archiv : European Journal Of Physiology
Hazard, Starr E SE; Patel, Shailendra B SB
Publication Date: 2007-02

Variant appearance in text: ABCG8: E238L
PubMed Link: 16440216
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots.

Clinical Genetics
Solcà, C C; Stanga, Z Z; Pandit, B B; Diem, P P; Greeve, J J; Patel, S B SB
Publication Date: 2005-08

Variant appearance in text: ABCG8: E238L
PubMed Link: 15996216
Variant Present in the following documents:
  • Main text
View BVdb publication page