Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A4
Variant:p.L48S

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.L48S
c.143T>C
Surrounding Variants
1 paper
NM_007120.3
p.L48L
c.142T>C
87 papers
NM_007120.3
p.L48V
c.142T>G
1 paper
NM_007120.3
p.E46E
c.138G>A
1 paper
NM_007120.3
p.E46V
c.137A>T
2 papers
NM_007120.3
p.E50D
c.150G>C
2 papers
NM_007120.3
p.E50D
c.150G>T
4 papers
NM_007120.3
p.R45W
c.133C>T
1 paper
NM_007120.3
p.H52D
c.154C>G
1 paper
NM_007120.3
p.S43N
c.128G>A
6 papers
NM_007120.3
p.S43delFs
c.127delA
1 paper
NM_007120.3
p.L42P
c.125T>C
17 papers
NM_007120.3
p.G55S
c.163G>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."