Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A3
Variant:p.H40P

UGT1A3

152 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 A3

HGNC Alias Symbol

UGT1C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_019093.4
p.H40P
c.119A>C
Surrounding Variants
1 paper
NM_019093.4
p.S43G
c.127A>G
2 papers
NM_019093.4
p.I36T
c.107T>C
17 papers
NM_019093.4
p.R45W
c.133C>T
1 paper
NM_019093.4
p.P35P
c.105C>T
32 papers
NM_019093.4
p.V47A
c.140T>C
7 papers
NM_019093.4
p.L48V
c.142T>G
1 paper
NM_019093.4
p.L48S
c.143T>C
3 papers
NM_019093.4
p.L32M
c.94T>A
2 papers
NM_019093.4
p.R49W
c.145C>T
1 paper
NM_019093.4
p.S28G
c.82A>G
1 paper
NM_019093.4
p.H52H
c.156T>C
8 papers
NM_019093.4
p.E27E
c.81G>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."