Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A4
Variant:p.Q289_E290Splc

UGT1A4

192 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 29–525UCSCUDP-glucoronosyl and UDP-glucosyl transferase

Gene Aliases

HGNC Name

UDP glucuronosyltransferase family 1 member A4

HGNC Alias Symbols

HUG-BR2; UGT1D

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_007120.3
p.Q289_E290Splc
c.867+98A>G
Surrounding Variants
4 papers
NM_007120.3
p.Q289_E290Splc
c.867+101G>T
1 paper
NM_007120.3
p.Q289_E290Splc
c.867+51A>T
6 papers
NM_007120.3
p.Q289_E290Splc
c.867+43C>T
1 paper
NM_007120.3
p.Q289_E290Splc
c.867+2T>A
3 papers
NM_007120.3
p.Q289_E290Splc
c.867+1G>T
1 paper
NM_007120.3
p.P286L
c.857C>T
1 paper
NM_007120.3
p.G284R
c.850G>A
1 paper
NM_007120.3
p.N283N
c.849C>T
1 paper
NM_007120.3
p.G278V
c.833G>T
1 paper
NM_007120.3
p.G277E
c.830G>A
1 paper
NM_007120.3
p.M273R
c.818T>G
1 paper
NM_007120.3
p.M270V
c.808A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."