Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A8
Variant:p.I211T

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
3 papers
NM_019076.5
p.I211T
c.632T>C
Surrounding Variants
1 paper
NM_019076.5
p.M212V
c.634A>G
1 paper
NM_019076.5
p.N209D
c.625A>G
1 paper
NM_019076.5
p.F203F
c.609C>T
6 papers
NM_019076.5
p.T202I
c.605C>T
2 papers
NM_019076.5
p.T202A
c.604A>G
1 paper
NM_019076.5
p.Q221fs
c.661_662fs
1 paper
NM_019076.5
p.Q221insFs
c.662_663insCC
1 paper
NM_019076.5
p.Y222fs
c.664_665fs
1 paper
NM_019076.5
p.Y222delFs
c.665delA
1 paper
NM_019076.5
p.D199D
c.597T>C
1 paper
NM_019076.5
p.S224fs
c.670_671fs
1 paper
NM_019076.5
p.S224delFs
c.672delC
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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."