PMID: 19835554

Franke RM, Gardner ER, Sparreboom A
Pharmacogenetics of drug transporters.
Curr Pharm Des. 2010;16(2):220-30., [PubMed]
Sentences
No. Mutations Sentence Comment
102 ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 19835554:102:165
status: VERIFIED
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In particular, a SNP in exon 5 of the ABCG2 gene has been described, in which a 421C>A transversion results in a lysine to glutamine amino acid change at codon 141 (Q141K) [68]. Login to comment
104 ABCG2 p.Val12Met
X
ABCG2 p.Val12Met 19835554:104:169
status: VERIFIED
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ABCG2 p.Ile206Leu
X
ABCG2 p.Ile206Leu 19835554:104:189
status: VERIFIED
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ABCG2 p.Asn590Tyr
X
ABCG2 p.Asn590Tyr 19835554:104:215
status: VERIFIED
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Several other SNPs have been identified in coding regions of the gene, and at least three additional non-synonymous SNPs have been identified occurring at positions 34 (V12M; exon 2), 616 (I206L, exon 6), and 1768 (N590Y, exon 15). Login to comment
108 ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 19835554:108:102
status: VERIFIED
view ABCG2 p.Gln141Lys details
Specifically, recent studies have demonstrated that subjects with a reduced ABCG2 activity due to the Q141K variant are at an increased risk for gefitinib-induced diarrhea [72], and altered pharmacokinetics of 9-aminocamptothecin, diflomotecan, irinotecan, rosuvastatin, sulfasalazine, and topotecan [64]. Login to comment