Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.W483*

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.W483*
c.1448G>A
Surrounding Variants
1 paper
NM_000463.3
p.W483*
c.1449G>A
1 paper
NM_000463.3
p.T482A
c.1444A>G
1 paper
NM_000463.3
p.L481P
c.1442T>C
1 paper
NM_000463.3
p.Y486N
c.1456T>A
1 paper
NM_000463.3
p.Y486H
c.1456T>C
199 papers
NM_000463.3
p.Y486D
c.1456T>G
7 papers
NM_000463.3
p.H487Y
c.1459C>T
1 paper
NM_000463.3
p.H479Y
c.1435C>T
6 papers
NM_000463.3
p.A478D
c.1433C>A
2 papers
NM_000463.3
p.S488C
c.1463C>G
3 papers
NM_000463.3
p.S488F
c.1463C>T
1 paper
NM_000463.3
p.L489L
c.1465T>C
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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."