Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A4
Variant:p.F172S

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.F172S
c.515T>C
Surrounding Variants
1 paper
NM_007120.3
p.F171F
c.513T>C
1 paper
NM_007120.3
p.W173delFs
c.517delT
4 papers
NM_007120.3
p.I176F
c.526A>T
1 paper
NM_007120.3
p.S166L
c.497C>T
1 paper
NM_007120.3
p.S166P
c.496T>C
1 paper
NM_007120.3
p.K163N
c.489G>C
1 paper
NM_007120.3
p.K163N
c.489G>T
1 paper
NM_007120.3
p.G158R
c.472G>A
5 papers
NM_007120.3
p.C157C
c.471T>C
1 paper
NM_007120.3
p.C157insFs
c.470_471insT
3 papers
NM_007120.3
p.P153S
c.457C>T
1 paper
NM_007120.3
p.D152E
c.456C>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."