Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A3
Variant:p.M114I

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
3 papers
NM_019093.4
p.M114I
c.342G>C
Surrounding Variants
4 papers
NM_019093.4
p.M114I
c.342G>A
3 papers
NM_019093.4
p.M114I
c.342G>T
1 paper
NM_019093.4
p.M114T
c.341T>C
1 paper
NM_019093.4
p.F110I
c.328T>A
1 paper
NM_019093.4
p.S121C
c.362C>G
2 papers
NM_019093.4
p.V123V
c.369C>T
1 paper
NM_019093.4
p.C128R
c.382T>C
1 paper
NM_019093.4
p.C128Y
c.383G>A
2 papers
NM_019093.4
p.L131I
c.391C>A
1 paper
NM_019093.4
p.Q98*
c.292C>T
1 paper
NM_019093.4
p.R91H
c.272G>A
1 paper
NM_019093.4
p.R91P
c.272G>C
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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."