Home
Browse
Search
Statistics
About
Usage
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
view ABCG2 p.Gln141Lys details
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
view ABCG2 p.Val12Met details
ABCG2 p.Ile206Leu
X
ABCG2 p.Ile206Leu 19835554:104:189
status:
VERIFIED
view ABCG2 p.Ile206Leu details
ABCG2 p.Asn590Tyr
X
ABCG2 p.Asn590Tyr 19835554:104:215
status:
VERIFIED
view ABCG2 p.Asn590Tyr details
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