Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A8
Variant:p.A231A

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.A231A
c.693C>T
Surrounding Variants
2 papers
NM_019076.5
p.A231T
c.691G>A
1 paper
NM_019076.5
p.I234T
c.701T>C
1 paper
NM_019076.5
p.L228I
c.682C>A
1 paper
NM_019076.5
p.N226fs
c.676_677fs
2 papers
NM_019076.5
p.T237T
c.711A>C
1 paper
NM_019076.5
p.S224fs
c.670_671fs
1 paper
NM_019076.5
p.S224delFs
c.672delC
3 papers
NM_019076.5
p.T240A
c.718A>G
1 paper
NM_019076.5
p.T240I
c.719C>T
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.Q221insFs
c.662_663insCC
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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."