Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A4
Variant:p.E71*

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.E71*
c.211G>T
Surrounding Variants
2 papers
NM_007120.3
p.E71K
c.211G>A
1 paper
NM_007120.3
p.I69_K70insFs
c.207_208insT
2 papers
NM_007120.3
p.K73N
c.219A>C
1 paper
NM_007120.3
p.K73N
c.219A>T
2 papers
NM_007120.3
p.H68Y
c.202C>T
1 paper
NM_007120.3
p.V65A
c.194T>C
2 papers
NM_007120.3
p.T78S
c.232A>T
1 paper
NM_007120.3
p.E64K
c.190G>A
1 paper
NM_007120.3
p.T78I
c.233C>T
1 paper
NM_007120.3
p.T78T
c.234A>G
2 papers
NM_007120.3
p.A79T
c.235G>A
1 paper
NM_007120.3
p.T62T
c.186C>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."