Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A8
Variant:p.F142S

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
1 paper
NM_019076.5
p.F142S
c.425T>C
Surrounding Variants
1 paper
NM_019076.5
p.D143H
c.427G>C
1 paper
NM_019076.5
p.S141C
c.422C>G
5 papers
NM_019076.5
p.A144V
c.431C>T
2 papers
NM_019076.5
p.S140N
c.419G>A
2 papers
NM_019076.5
p.E139K
c.415G>A
2 papers
NM_019076.5
p.L147P
c.440T>C
1 paper
NM_019076.5
p.L147L
c.441T>G
2 papers
NM_019076.5
p.F150L
c.448T>C
1 paper
NM_019076.5
p.D151N
c.451G>A
1 paper
NM_019076.5
p.D151H
c.451G>C
3 papers
NM_019076.5
p.R131Q
c.392G>A
3 papers
NM_019076.5
p.R131R
c.391C>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."