SLCO1B1 c.390T>C ;(p.N130=)

Variant ID: 12-21329740-T-C

NM_006446.4(SLCO1B1):c.390T>C;(p.N130=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: SLCO1B1: N130N
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
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Functional expression of the 11 human Organic Anion Transporting Polypeptides in insect cells reveals that sodium fluorescein is a general OATP substrate.

Biochemical Pharmacology
Patik, Izabel I; Kovacsics, Daniella D; Német, Orsolya O; Gera, Melinda M; Várady, György G; Stieger, Bruno B; Hagenbuch, Bruno B; Szakács, Gergely G; Özvegy-Laczka, Csilla C
Publication Date: 2015-12-15

Variant appearance in text: OATP1B1: N130N
PubMed Link: 26415544
Variant Present in the following documents:
  • Main text
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