Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.L16L

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.L16L
c.46C>T
Surrounding Variants
1 paper
NM_000463.3
p.L16V
c.46C>G
1 paper
NM_000463.3
p.L15L
c.45G>A
2 papers
NM_000463.3
p.L16delins
c.48delinsA
1 paper
NM_000463.3
p.L15Q
c.44T>A
1 paper
NM_000463.3
p.L15P
c.44T>C
20 papers
NM_000463.3
p.L15R
c.44T>G
1 paper
NM_000463.3
p.L15M
c.43C>A
1 paper
NM_000463.3
p.L15L
c.43C>T
3 papers
NM_000463.3
p.L17P
c.50T>C
1 paper
NM_000463.3
p.G14D
c.41G>A
1 paper
NM_000463.3
p.L17L
c.51G>A
1 paper
NM_000463.3
p.L17L
c.51G>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."