Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A8
Variant:p.S122fs

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.S122fs
c.364_365fs
Surrounding Variants
1 paper
NM_019076.5
p.S122L
c.365C>T
1 paper
NM_019076.5
p.F120fs
c.358_359fs
1 paper
NM_019076.5
p.L119_F120insFs
c.357_358insT
2 papers
NM_019076.5
p.S126G
c.376A>G
1 paper
NM_019076.5
p.F128L
c.382T>C
1 paper
NM_019076.5
p.N129S
c.386A>G
4 papers
NM_019076.5
p.N129K
c.387T>A
5 papers
NM_019076.5
p.N129K
c.387T>G
3 papers
NM_019076.5
p.R131R
c.391C>A
3 papers
NM_019076.5
p.R131Q
c.392G>A
1 paper
NM_019076.5
p.L110M
c.328C>A
2 papers
NM_019076.5
p.E139K
c.415G>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."