ABCG8 c.1269G>C ;(p.E423D)

Variant ID: 2-44100983-G-C

NM_022437.2(ABCG8):c.1269G>C;(p.E423D)

This variant was identified in 4 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: E423D
PubMed Link: 32978801
Variant Present in the following documents:
  • Main text
  • FEB2-594-4035.pdf
View BVdb publication page



ABCG5 and ABCG8: more than a defense against xenosterols.

Journal Of Lipid Research
Patel, Shailendra B SB; Graf, Gregory A GA; Temel, Ryan E RE
Publication Date: 2018-07

Variant appearance in text: ABCG8: E423D
PubMed Link: 29728459
Variant Present in the following documents:
  • Main text
View BVdb publication page



Plant Sterols, Stanols, and Sitosterolemia.

Journal Of Aoac International
Ajagbe, Bridget O BO; Othman, Rgia A RA; Myrie, Semone B SB
Publication Date: 2015

Variant appearance in text: ABCG8: E423D
PubMed Link: 25941971
Variant Present in the following documents:
  • Main text
View BVdb publication page



Liver transplantation in a patient with sitosterolemia and cirrhosis.

Gastroenterology
Miettinen, Tatu A TA; Klett, Eric L EL; Gylling, Helena H; Isoniemi, Helena H; Patel, Shailendra B SB
Publication Date: 2006-02

Variant appearance in text: ABCG8: E423D
PubMed Link: 16472606
Variant Present in the following documents:
  • Main text
View BVdb publication page