Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A4
Variant:p.D147E

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
1 paper
NM_007120.3
p.D147E
c.441T>G
Surrounding Variants
1 paper
NM_007120.3
p.V149A
c.446T>C
7 papers
NM_007120.3
p.L150L
c.448T>C
1 paper
NM_007120.3
p.T151A
c.451A>G
2 papers
NM_007120.3
p.T144I
c.431C>T
1 paper
NM_007120.3
p.D152A
c.455A>C
1 paper
NM_007120.3
p.A143P
c.427G>C
1 paper
NM_007120.3
p.D152E
c.456C>A
1 paper
NM_007120.3
p.D152E
c.456C>G
3 papers
NM_007120.3
p.P153S
c.457C>T
1 paper
NM_007120.3
p.L141M
c.421C>A
1 paper
NM_007120.3
p.H140N
c.418C>A
1 paper
NM_007120.3
p.R139K
c.416G>A
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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."