Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A9
Variant:p.I230L

UGT1A9

275 papers

RefSeq Summary

This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-solub...

Pfam Domains

UDPGTaa 26–521UCSCUDP-glucoronosyl and UDP-glucosyl transferase

Gene Aliases

HGNC Name

UDP glucuronosyltransferase family 1 member A9

HGNC Alias Symbols

HLUGP4; LUGP4; UGT1AI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_021027.3
p.I230L
c.688A>C
Surrounding Variants
1 paper
NM_021027.3
p.A227_L228insFs
c.681_682ins10
1 paper
NM_021027.3
p.A227fs
c.679_680fs
1 paper
NM_021027.3
p.I234T
c.701T>C
1 paper
NM_021027.3
p.F224_A227delFs
c.672_681del10
1 paper
NM_021027.3
p.F224fs
c.670_671fs
1 paper
NM_021027.3
p.F223Y
c.668T>A
1 paper
NM_021027.3
p.T237I
c.710C>T
1 paper
NM_021027.3
p.R222fs
c.664_665fs
1 paper
NM_021027.3
p.H221Q
c.663C>A
1 paper
NM_021027.3
p.H221Q
c.663C>G
1 paper
NM_021027.3
p.C220C
c.660C>T
1 paper
NM_021027.3
p.T240A
c.718A>G
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