Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A4
Variant:p.L18L

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
2 papers
NM_007120.3
p.L18L
c.54C>T
Surrounding Variants
1 paper
NM_007120.3
p.L18insFs
c.53_54insTA
1 paper
NM_007120.3
p.L17L
c.49C>T
1 paper
NM_007120.3
p.G15E
c.44G>A
1 paper
NM_007120.3
p.V22L
c.64G>C
3 papers
NM_007120.3
p.T14T
c.42A>G
65 papers
NM_007120.3
p.P24T
c.70C>A
1 paper
NM_007120.3
p.P24S
c.70C>T
1 paper
NM_007120.3
p.P24L
c.71C>T
1 paper
NM_007120.3
p.A13P
c.37G>C
3 papers
NM_007120.3
p.L12L
c.36G>A
7 papers
NM_007120.3
p.R11W
c.31C>T
3 papers
NM_007120.3
p.P10P
c.30G>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."