Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.A527P

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
1 paper
NM_000463.3
p.A527P
c.1579G>C
Surrounding Variants
1 paper
NM_000463.3
p.H528Y
c.1582C>T
1 paper
NM_000463.3
p.K525insFs
c.1574_1575insG
3 papers
NM_000463.3
p.H528Q
c.1584C>G
1 paper
NM_000463.3
p.S530F
c.1589C>T
3 papers
NM_000463.3
p.R523*
c.1567C>T
2 papers
NM_000463.3
p.R523fs
c.1567_1568fs
1 paper
NM_000463.3
p.R523_K525del3
c.1567_1574del9
1 paper
NM_000463.3
p.T532I
c.1595C>T
4 papers
NM_000463.3
p.H533P
c.1598A>C
7 papers
NM_000463.3
p.*534*
c.1601G>A
2 papers
NM_000463.3
p.G519G
c.1557G>A
1 paper
NM_000463.3
p.K521delFs
c.1563delA
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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."