Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A8
Variant:p.R103Q

UGT1A8

178 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 26–521UCSCUDP-glucoronosyl and UDP-glucosyl transferase

Gene Aliases

HGNC Name

UDP glucuronosyltransferase family 1 member A8

HGNC Alias Symbol

UGT1H

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_019076.5
p.R103Q
c.308G>A
Surrounding Variants
1 paper
NM_019076.5
p.W98L
c.293G>T
1 paper
NM_019076.5
p.L110M
c.328C>A
1 paper
NM_019076.5
p.R88R
c.264G>A
1 paper
NM_019076.5
p.L119_F120insFs
c.357_358insT
1 paper
NM_019076.5
p.F120fs
c.358_359fs
2 papers
NM_019076.5
p.D85E
c.255T>A
1 paper
NM_019076.5
p.D85N
c.253G>A
1 paper
NM_019076.5
p.D85Y
c.253G>T
1 paper
NM_019076.5
p.S122fs
c.364_365fs
1 paper
NM_019076.5
p.S122L
c.365C>T
1 paper
NM_019076.5
p.L83M
c.247C>A
1 paper
NM_019076.5
p.T82N
c.245C>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."