UGT1A1 c.840C>A ;(p.C280*)

Variant ID: 2-234669773-C-A

NM_000463.2(UGT1A1):c.840C>A;(p.C280*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Therapeutic and Toxic Effects of Valproic Acid Metabolites.

Metabolites
Shnayder, Natalia A NA; Grechkina, Violetta V VV; Khasanova, Aiperi K AK; Bochanova, Elena N EN; Dontceva, Evgenia A EA; Petrova, Marina M MM; Asadullin, Azat R AR; Shipulin, German A GA; Altynbekov, Kuanysh S KS; Al-Zamil, Mustafa M; Nasyrova, Regina F RF
Publication Date: 2023-01-16

Variant appearance in text: rs281865418
PubMed Link: 36677060
Variant Present in the following documents:
  • Main text
  • metabolites-13-00134.pdf
View BVdb publication page



Gilbert Syndrome with Concomitant Hereditary Spherocytosis Presenting with Moderate Unconjugated Hyperbilirubinemia.

Internal Medicine (Tokyo, Japan)
Aiso, Mitsuhiko M; Yagi, Minami M; Tanaka, Atsushi A; Miura, Kotaro K; Miura, Ryo R; Arizumi, Toshihiko T; Takamori, Yoriyuki Y; Nakahara, Sayuri S; Maruo, Yoshihiro Y; Takikawa, Hajime H
Publication Date: 2017

Variant appearance in text: UGT1A1: C280X
PubMed Link: 28321066
Variant Present in the following documents:
  • Main text
  • 1349-7235-56-0661.pdf
View BVdb publication page



Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics And Genomics
Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR
Publication Date: 2017-03

Variant appearance in text: rs281865418
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
View BVdb publication page