Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.R266M

UGT1A1

1,221 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 28–524UCSCUDP-glucoronosyl and UDP-glucosyl transferase

Gene Aliases

HGNC Name

UDP glucuronosyltransferase family 1 member A1

HGNC Previous Symbols

UGT1; GNT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000463.3
p.R266M
c.797G>T
Surrounding Variants
2 papers
NM_000463.3
p.P267delFs
c.801delC
2 papers
NM_000463.3
p.P267R
c.800C>G
1 paper
NM_000463.3
p.P265R
c.794C>G
2 papers
NM_000463.3
p.P267L
c.800C>T
1 paper
NM_000463.3
p.P265delFs
c.795delT
2 papers
NM_000463.3
p.P265A
c.793C>G
1 paper
NM_000463.3
p.I268V
c.802A>G
3 papers
NM_000463.3
p.Y264*
c.792C>G
1 paper
NM_000463.3
p.I268T
c.803T>C
1 paper
NM_000463.3
p.I268I
c.804C>T
1 paper
NM_000463.3
p.M269ins1
c.806_807insGCT
2 papers
NM_000463.3
p.M269L
c.805A>T
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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."